12-19500096-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19500096
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19500096
    reference: chr 12
allele count: 1
allele frequency: 4.659832246039143e-5
allele num: 21460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+3728C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2878C>T
  hgvsp: ENSP00000404296.2:p.Pro960Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2347C>T
  hgvsp: ENSP00000400411.1:p.Pro783Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2245C>T
  hgvsp: ENSP00000440371.1:p.Pro749Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2569C>T
  hgvsp: ENSP00000325155.4:p.Pro857Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2326C>T
  hgvsp: ENSP00000439837.1:p.Pro776Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+3728C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2575-1237C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2575-1237C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2401-1237C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1675-1237C>T
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro960Ser
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD

12-19500111-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19500111
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19500111
    reference: chr 12
allele count: 39
allele frequency: 1.845891707686482e-3
allele num: 21128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1675-1222C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2575-1222C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2575-1222C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2341C>T
  hgvsp: ENSP00000439837.1:p.His781Tyr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2362C>T
  hgvsp: ENSP00000400411.1:p.His788Tyr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2260C>T
  hgvsp: ENSP00000440371.1:p.His754Tyr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2584C>T
  hgvsp: ENSP00000325155.4:p.His862Tyr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2893C>T
  hgvsp: ENSP00000404296.2:p.His965Tyr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+3743C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2401-1222C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+3743C>T
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.His965Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

12-19500130-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19500130
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19500130
    reference: chr 12
allele count: 1
allele frequency: 4.862867146469558e-5
allele num: 20564
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+3762A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2898+14A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2589+14A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2401-1203A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2367+14A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2575-1203A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1675-1203A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2575-1203A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+3762A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2346+14A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2265+14A>G
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

12-19500151-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19500151
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19500151
    reference: chr 12
allele count: 7
allele frequency: 3.570335611547486e-4
allele num: 19606
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2575-1182C>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1675-1182C>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2265+35C>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2367+35C>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2575-1182C>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2346+35C>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2589+35C>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2401-1182C>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2898+35C>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+3783C>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+3783C>G
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

12-19500155-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19500155
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19500155
    reference: chr 12
allele count: 1
allele frequency: 5.232314776056928e-5
allele num: 19112
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2575-1178A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2898+39A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1675-1178A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2589+39A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2367+39A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2346+39A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+3787A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+3787A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2575-1178A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2265+39A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2401-1178A>G
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum

12-19501282-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501282
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501282
    reference: chr 12
allele count: 17
allele frequency: 1.412593688199026e-4
allele num: 120346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2347-51A>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2401-51A>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2266-51A>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+4914A>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2575-51A>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1675-51A>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2368-51A>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2899-51A>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2590-51A>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2575-51A>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+4914A>T
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8890
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12581
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11348
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

12-19501292-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501292
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501292
    reference: chr 12
allele count: 2
allele frequency: 1.661046791688122e-5
allele num: 120406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2401-41T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2368-41T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+4924T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2590-41T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+4924T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2575-41T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2266-41T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2347-41T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2899-41T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2575-41T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1675-41T>C
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8893
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

12-19501293-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501293
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501293
    reference: chr 12
allele count: 1
allele frequency: 8.304268393954492e-6
allele num: 120420
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+4925T>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2575-40T>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2266-40T>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2401-40T>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+4925T>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2347-40T>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2575-40T>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2368-40T>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1675-40T>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2590-40T>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2899-40T>A
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6834
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-19501293-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501293
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501293
    reference: chr 12
allele count: 1
allele frequency: 8.304268393954492e-6
allele num: 120420
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2401-40T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2347-40T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1675-40T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2590-40T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2575-40T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2368-40T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+4925T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+4925T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2575-40T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2899-40T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2266-40T>C
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11433
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/12-19501298-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501298
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501298
    reference: chr 12
allele count: 1
allele frequency: 8.300683976359652e-6
allele num: 120472
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2575-35A>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2575-35A>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2401-35A>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2590-35A>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2899-35A>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2347-35A>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+4930A>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1675-35A>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2266-35A>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2368-35A>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+4930A>C
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

12-19501298-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501298
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501298
    reference: chr 12
allele count: 78
allele frequency: 6.474533501560529e-4
allele num: 120472
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2266-35A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+4930A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+4930A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2575-35A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1675-35A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2347-35A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2368-35A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2899-35A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2401-35A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2575-35A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2590-35A>G
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12905
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 11481
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8883
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: A
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

12-19501299-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501299
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501300
    reference: chr 12
allele count: 2
allele frequency: 1.660329741486659e-5
allele num: 120458
alternate allele: GT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2899-28dupT
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1675-28dupT
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+4937dupT
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2590-28dupT
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2401-28dupT
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2368-28dupT
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2575-28dupT
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2347-28dupT
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2266-28dupT
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+4937dupT
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2575-28dupT
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11512
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8892
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4294
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/12-19501317-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501317
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501317
    reference: chr 12
allele count: 1
allele frequency: 8.269930532583527e-6
allele num: 120920
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2899-16A>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2575-16A>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2347-16A>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2575-16A>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2368-16A>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+4949A>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+4949A>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2590-16A>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1675-16A>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2266-16A>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2401-16A>C
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11539
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-19501317-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501317
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501317
    reference: chr 12
allele count: 2
allele frequency: 1.653986106516705e-5
allele num: 120920
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2401-16A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2575-16A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2899-16A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2590-16A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2575-16A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2368-16A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+4949A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2347-16A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1675-16A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+4949A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2266-16A>G
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16058
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-19501319-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501319
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501319
    reference: chr 12
allele count: 2
allele frequency: 1.653220473482343e-5
allele num: 120976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2575-14G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2347-14G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2575-14G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+4951G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2266-14G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2368-14G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2899-14G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1675-14G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2590-14G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2401-14G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+4951G>A
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

12-19501350-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501350
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501350
    reference: chr 12
allele count: 2
allele frequency: 1.648505629646725e-5
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2418C>T
  hgvsp: ENST00000299275.6:c.2418C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1692C>T
  hgvsp: ENST00000539256.1:c.1692C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+4982C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2283C>T
  hgvsp: ENST00000536974.1:c.2283C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2607C>T
  hgvsp: ENST00000317589.4:c.2607C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2364C>T
  hgvsp: ENST00000543806.1:c.2364C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2916C>T
  hgvsp: ENST00000429027.2:c.2916C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2592C>T
  hgvsp: ENST00000538714.1:c.2592C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2592C>T
  hgvsp: ENST00000355397.3:c.2592C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+4982C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2385C>T
  hgvsp: ENST00000424268.1:c.2385C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu972Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

12-19501352-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501352
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501352
    reference: chr 12
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+4984A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2594A>G
  hgvsp: ENSP00000347560.3:p.Tyr865Cys
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2594A>G
  hgvsp: ENSP00000439673.1:p.Tyr865Cys
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+4984A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2285A>G
  hgvsp: ENSP00000440371.1:p.Tyr762Cys
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2918A>G
  hgvsp: ENSP00000404296.2:p.Tyr973Cys
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2387A>G
  hgvsp: ENSP00000400411.1:p.Tyr796Cys
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2366A>G
  hgvsp: ENSP00000439837.1:p.Tyr789Cys
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1694A>G
  hgvsp: ENSP00000440611.1:p.Tyr565Cys
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2609A>G
  hgvsp: ENSP00000325155.4:p.Tyr870Cys
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2420A>G
  hgvsp: ENSP00000299275.6:p.Tyr807Cys
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr973Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

12-19501363-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501363
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501363
    reference: chr 12
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2605C>T
  hgvsp: ENSP00000439673.1:p.Pro869Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2398C>T
  hgvsp: ENSP00000400411.1:p.Pro800Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2377C>T
  hgvsp: ENSP00000439837.1:p.Pro793Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+4995C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2431C>T
  hgvsp: ENSP00000299275.6:p.Pro811Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2296C>T
  hgvsp: ENSP00000440371.1:p.Pro766Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2620C>T
  hgvsp: ENSP00000325155.4:p.Pro874Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2929C>T
  hgvsp: ENSP00000404296.2:p.Pro977Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2605C>T
  hgvsp: ENSP00000347560.3:p.Pro869Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1705C>T
  hgvsp: ENSP00000440611.1:p.Pro569Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+4995C>T
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11562
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro977Ser
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

12-19501365-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501365
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501365
    reference: chr 12
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2400A>T
  hgvsp: ENST00000424268.1:c.2400A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2607A>T
  hgvsp: ENST00000538714.1:c.2607A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2931A>T
  hgvsp: ENST00000429027.2:c.2931A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+4997A>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2298A>T
  hgvsp: ENST00000536974.1:c.2298A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1707A>T
  hgvsp: ENST00000539256.1:c.1707A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2622A>T
  hgvsp: ENST00000317589.4:c.2622A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+4997A>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2379A>T
  hgvsp: ENST00000543806.1:c.2379A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2433A>T
  hgvsp: ENST00000299275.6:c.2433A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2607A>T
  hgvsp: ENST00000355397.3:c.2607A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro977Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-19501375-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501375
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501375
    reference: chr 12
allele count: 9
allele frequency: 7.417052628108981e-5
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1717A>G
  hgvsp: ENSP00000440611.1:p.Thr573Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2410A>G
  hgvsp: ENSP00000400411.1:p.Thr804Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2617A>G
  hgvsp: ENSP00000347560.3:p.Thr873Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2632A>G
  hgvsp: ENSP00000325155.4:p.Thr878Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2443A>G
  hgvsp: ENSP00000299275.6:p.Thr815Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2617A>G
  hgvsp: ENSP00000439673.1:p.Thr873Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2308A>G
  hgvsp: ENSP00000440371.1:p.Thr770Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+5007A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2941A>G
  hgvsp: ENSP00000404296.2:p.Thr981Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2389A>G
  hgvsp: ENSP00000439837.1:p.Thr797Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+5007A>G
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr981Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

12-19501381-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501381
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501381
    reference: chr 12
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2623G>A
  hgvsp: ENSP00000347560.3:p.Ala875Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+5013G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2623G>A
  hgvsp: ENSP00000439673.1:p.Ala875Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2449G>A
  hgvsp: ENSP00000299275.6:p.Ala817Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2314G>A
  hgvsp: ENSP00000440371.1:p.Ala772Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2395G>A
  hgvsp: ENSP00000439837.1:p.Ala799Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2638G>A
  hgvsp: ENSP00000325155.4:p.Ala880Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2947G>A
  hgvsp: ENSP00000404296.2:p.Ala983Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1723G>A
  hgvsp: ENSP00000440611.1:p.Ala575Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2416G>A
  hgvsp: ENSP00000400411.1:p.Ala806Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+5013G>A
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala983Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS

12-19501400-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501400
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501400
    reference: chr 12
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2414A>G
  hgvsp: ENSP00000439837.1:p.Asn805Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2333A>G
  hgvsp: ENSP00000440371.1:p.Asn778Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2966A>G
  hgvsp: ENSP00000404296.2:p.Asn989Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2642A>G
  hgvsp: ENSP00000347560.3:p.Asn881Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+5032A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2468A>G
  hgvsp: ENSP00000299275.6:p.Asn823Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2435A>G
  hgvsp: ENSP00000400411.1:p.Asn812Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2657A>G
  hgvsp: ENSP00000325155.4:p.Asn886Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2642A>G
  hgvsp: ENSP00000439673.1:p.Asn881Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1742A>G
  hgvsp: ENSP00000440611.1:p.Asn581Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+5032A>G
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn989Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

12-19501417-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501417
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501417
    reference: chr 12
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+5049G>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1759G>C
  hgvsp: ENSP00000440611.1:p.Glu587Gln
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2452G>C
  hgvsp: ENSP00000400411.1:p.Glu818Gln
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2659G>C
  hgvsp: ENSP00000439673.1:p.Glu887Gln
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+5049G>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2485G>C
  hgvsp: ENSP00000299275.6:p.Glu829Gln
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2983G>C
  hgvsp: ENSP00000404296.2:p.Glu995Gln
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2674G>C
  hgvsp: ENSP00000325155.4:p.Glu892Gln
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2431G>C
  hgvsp: ENSP00000439837.1:p.Glu811Gln
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2350G>C
  hgvsp: ENSP00000440371.1:p.Glu784Gln
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2659G>C
  hgvsp: ENSP00000347560.3:p.Glu887Gln
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu995Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-19501419-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501419
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501419
    reference: chr 12
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2661A>T
  hgvsp: ENSP00000439673.1:p.Glu887Asp
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+5051A>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2487A>T
  hgvsp: ENSP00000299275.6:p.Glu829Asp
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2985A>T
  hgvsp: ENSP00000404296.2:p.Glu995Asp
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2454A>T
  hgvsp: ENSP00000400411.1:p.Glu818Asp
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2433A>T
  hgvsp: ENSP00000439837.1:p.Glu811Asp
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2676A>T
  hgvsp: ENSP00000325155.4:p.Glu892Asp
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2661A>T
  hgvsp: ENSP00000347560.3:p.Glu887Asp
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2352A>T
  hgvsp: ENSP00000440371.1:p.Glu784Asp
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+5051A>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1761A>T
  hgvsp: ENSP00000440611.1:p.Glu587Asp
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu995Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-19501420-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501420
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501420
    reference: chr 12
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2986C>A
  hgvsp: ENSP00000404296.2:p.Pro996Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1762C>A
  hgvsp: ENSP00000440611.1:p.Pro588Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2488C>A
  hgvsp: ENSP00000299275.6:p.Pro830Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2677C>A
  hgvsp: ENSP00000325155.4:p.Pro893Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2662C>A
  hgvsp: ENSP00000347560.3:p.Pro888Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2455C>A
  hgvsp: ENSP00000400411.1:p.Pro819Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2353C>A
  hgvsp: ENSP00000440371.1:p.Pro785Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2662C>A
  hgvsp: ENSP00000439673.1:p.Pro888Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+5052C>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+5052C>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2434C>A
  hgvsp: ENSP00000439837.1:p.Pro812Thr
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro996Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

12-19501431-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501431
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501431
    reference: chr 12
allele count: 1
allele frequency: 8.266102367411717e-6
allele num: 120976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2688G>A
  hgvsp: ENST00000317589.4:c.2688G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+5063G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2997G>A
  hgvsp: ENST00000429027.2:c.2997G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2499G>A
  hgvsp: ENST00000299275.6:c.2499G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+5063G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2673G>A
  hgvsp: ENST00000538714.1:c.2673G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2364G>A
  hgvsp: ENST00000536974.1:c.2364G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2466G>A
  hgvsp: ENST00000424268.1:c.2466G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2445G>A
  hgvsp: ENST00000543806.1:c.2445G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1773G>A
  hgvsp: ENST00000539256.1:c.1773G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2673G>A
  hgvsp: ENST00000355397.3:c.2673G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8887
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu999Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

12-19501432-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501432
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501432
    reference: chr 12
allele count: 1
allele frequency: 8.267742575567167e-6
allele num: 120952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2467A>G
  hgvsp: ENSP00000400411.1:p.Ile823Val
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1774A>G
  hgvsp: ENSP00000440611.1:p.Ile592Val
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2446A>G
  hgvsp: ENSP00000439837.1:p.Ile816Val
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.2998A>G
  hgvsp: ENSP00000404296.2:p.Ile1000Val
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+5064A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2500A>G
  hgvsp: ENSP00000299275.6:p.Ile834Val
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2689A>G
  hgvsp: ENSP00000325155.4:p.Ile897Val
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2674A>G
  hgvsp: ENSP00000347560.3:p.Ile892Val
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2674A>G
  hgvsp: ENSP00000439673.1:p.Ile892Val
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2365A>G
  hgvsp: ENSP00000440371.1:p.Ile789Val
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+5064A>G
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1000Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

12-19501466-AAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501466
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501464
    reference: chr 12
allele count: 1
allele frequency: 8.454228805248384e-6
allele num: 118284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2488+16_2488+17delAT
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2467+16_2467+17delAT
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2710+16_2710+17delAT
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3019+16_3019+17delAT
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+5101_2353+5102delAT
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2695+16_2695+17delAT
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2521+16_2521+17delAT
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+5101_364+5102delAT
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1795+16_1795+17delAT
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2695+16_2695+17delAT
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2386+16_2386+17delAT
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10756
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: AAT
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-19501469-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501469
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501469
    reference: chr 12
allele count: 5
allele frequency: 4.233556865135813e-5
allele num: 118104
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+5101A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2521+16A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2386+16A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+5101A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2467+16A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2710+16A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2488+16A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2695+16A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1795+16A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3019+16A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2695+16A>G
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8811
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3289
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

12-19501470-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501470
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501470
    reference: chr 12
allele count: 4
allele frequency: 3.38839474798814e-5
allele num: 118050
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2488+17T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2467+17T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+5102T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1795+17T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2521+17T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2695+17T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+5102T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2710+17T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2386+17T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3019+17T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2695+17T>C
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4277
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

12-19501475-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501475
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501475
    reference: chr 12
allele count: 2
allele frequency: 1.700709195734621e-5
allele num: 117598
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2695+22T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+5107T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3019+22T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2521+22T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2695+22T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2386+22T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2467+22T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2710+22T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1795+22T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+5107T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2488+22T>C
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-19501481-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501481
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501481
    reference: chr 12
allele count: 2
allele frequency: 1.71294472327378e-5
allele num: 116758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2710+28T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2467+28T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+5113T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2695+28T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1795+28T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2695+28T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3019+28T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2488+28T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2521+28T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2386+28T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+5113T>C
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

12-19501494-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501494
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501494
    reference: chr 12
allele count: 1
allele frequency: 8.680706262261498e-6
allele num: 115198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2521+41T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2386+41T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+5126T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2710+41T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+5126T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1795+41T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2488+41T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2695+41T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2695+41T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3019+41T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2467+41T>C
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8735
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

12-19501498-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501498
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501498
    reference: chr 12
allele count: 1
allele frequency: 8.701402666109778e-6
allele num: 114924
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2710+45A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2695+45A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2488+45A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+5130A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2521+45A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2386+45A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3019+45A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+5130A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2467+45A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1795+45A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2695+45A>G
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

12-19501504-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19501504
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19501504
    reference: chr 12
allele count: 1
allele frequency: 8.771468168342018e-6
allele num: 114006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1795+51T>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.364+5136T>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2467+51T>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2695+51T>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3019+51T>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2353+5136T>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2710+51T>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2521+51T>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2695+51T>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2386+51T>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2488+51T>G
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS

12-19506773-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506773
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506773
    reference: chr 12
allele count: 2
allele frequency: 1.653220473482343e-5
allele num: 120976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2468-45G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2522-45G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2711-45G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2696-45G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2387-45G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1796-45G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.365-45G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2489-45G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2354-45G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2696-45G>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3020-45G>A
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

12-19506773-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506773
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506773
    reference: chr 12
allele count: 2
allele frequency: 1.653220473482343e-5
allele num: 120976
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2696-45G>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3020-45G>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1796-45G>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2696-45G>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2354-45G>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2711-45G>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2522-45G>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2489-45G>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2468-45G>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2387-45G>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.365-45G>C
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17579
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12774
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

12-19506782-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506782
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506782
    reference: chr 12
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2522-36A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2354-36A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2387-36A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2468-36A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3020-36A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2711-36A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2696-36A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.365-36A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2489-36A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2696-36A>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1796-36A>G
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-19506785-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506785
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506785
    reference: chr 12
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2696-33T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3020-33T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1796-33T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2387-33T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2489-33T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2696-33T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2468-33T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2354-33T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2522-33T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.365-33T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2711-33T>C
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

12-19506795-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506795
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506795
    reference: chr 12
allele count: 12
allele frequency: 9.906711797242632e-5
allele num: 121130
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2468-23C>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2489-23C>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2711-23C>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2354-23C>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2522-23C>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3020-23C>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1796-23C>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2696-23C>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.365-23C>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2696-23C>G
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2387-23C>G
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12807
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7246
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-19506798-ACTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506798
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506795
    reference: chr 12
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2468-16_2468-14delCTG
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2489-16_2489-14delCTG
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.365-16_365-14delCTG
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2696-16_2696-14delCTG
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3020-16_3020-14delCTG
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2711-16_2711-14delCTG
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1796-16_1796-14delCTG
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2387-16_2387-14delCTG
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2354-16_2354-14delCTG
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2696-16_2696-14delCTG
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2522-16_2522-14delCTG
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: ACTG
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

12-19506799-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506799
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506799
    reference: chr 12
allele count: 7
allele frequency: 5.776626120252851e-5
allele num: 121178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2711-19C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3020-19C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.365-19C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2696-19C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1796-19C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2354-19C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2522-19C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2489-19C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2387-19C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2696-19C>T
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2468-19C>T
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-19506803-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506803
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506803
    reference: chr 12
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2387-15T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3020-15T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2696-15T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2696-15T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1796-15T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.365-15T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2489-15T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2354-15T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2468-15T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2522-15T>C
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2711-15T>C
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

12-19506808-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506808
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506808
    reference: chr 12
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2696-10T>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2354-10T>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3020-10T>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2489-10T>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2522-10T>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2711-10T>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2468-10T>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1796-10T>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2387-10T>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.365-10T>A
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2696-10T>A
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13197
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-19506820-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506820
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506820
    reference: chr 12
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2524T>G
  hgvsp: ENSP00000299275.6:p.Ser842Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2491T>G
  hgvsp: ENSP00000400411.1:p.Ser831Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.367T>G
  hgvsp: ENSP00000443553.1:p.Ser123Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2698T>G
  hgvsp: ENSP00000439673.1:p.Ser900Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2470T>G
  hgvsp: ENSP00000439837.1:p.Ser824Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2356T>G
  hgvsp: ENSP00000352104.3:p.Ser786Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3022T>G
  hgvsp: ENSP00000404296.2:p.Ser1008Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2389T>G
  hgvsp: ENSP00000440371.1:p.Ser797Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2713T>G
  hgvsp: ENSP00000325155.4:p.Ser905Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1798T>G
  hgvsp: ENSP00000440611.1:p.Ser600Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2698T>G
  hgvsp: ENSP00000347560.3:p.Ser900Ala
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1008Ala
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-19506821-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506821
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506821
    reference: chr 12
allele count: 2
allele frequency: 1.648043772042586e-5
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2525C>T
  hgvsp: ENSP00000299275.6:p.Ser842Phe
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2699C>T
  hgvsp: ENSP00000347560.3:p.Ser900Phe
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2357C>T
  hgvsp: ENSP00000352104.3:p.Ser786Phe
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2390C>T
  hgvsp: ENSP00000440371.1:p.Ser797Phe
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.368C>T
  hgvsp: ENSP00000443553.1:p.Ser123Phe
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1799C>T
  hgvsp: ENSP00000440611.1:p.Ser600Phe
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2492C>T
  hgvsp: ENSP00000400411.1:p.Ser831Phe
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3023C>T
  hgvsp: ENSP00000404296.2:p.Ser1008Phe
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2471C>T
  hgvsp: ENSP00000439837.1:p.Ser824Phe
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2699C>T
  hgvsp: ENSP00000439673.1:p.Ser900Phe
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2714C>T
  hgvsp: ENSP00000325155.4:p.Ser905Phe
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1008Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS

http://identifiers.org/exac.variant/12-19506829-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506829
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506829
    reference: chr 12
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2500C>A
  hgvsp: ENSP00000400411.1:p.Pro834Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3031C>A
  hgvsp: ENSP00000404296.2:p.Pro1011Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2479C>A
  hgvsp: ENSP00000439837.1:p.Pro827Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2722C>A
  hgvsp: ENSP00000325155.4:p.Pro908Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1807C>A
  hgvsp: ENSP00000440611.1:p.Pro603Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2365C>A
  hgvsp: ENSP00000352104.3:p.Pro789Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2707C>A
  hgvsp: ENSP00000347560.3:p.Pro903Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2707C>A
  hgvsp: ENSP00000439673.1:p.Pro903Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2398C>A
  hgvsp: ENSP00000440371.1:p.Pro800Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2533C>A
  hgvsp: ENSP00000299275.6:p.Pro845Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.376C>A
  hgvsp: ENSP00000443553.1:p.Pro126Thr
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1011Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

12-19506836-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506836
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506836
    reference: chr 12
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2714G>A
  hgvsp: ENSP00000347560.3:p.Gly905Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2372G>A
  hgvsp: ENSP00000352104.3:p.Gly791Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2729G>A
  hgvsp: ENSP00000325155.4:p.Gly910Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1814G>A
  hgvsp: ENSP00000440611.1:p.Gly605Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2540G>A
  hgvsp: ENSP00000299275.6:p.Gly847Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2405G>A
  hgvsp: ENSP00000440371.1:p.Gly802Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.383G>A
  hgvsp: ENSP00000443553.1:p.Gly128Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2714G>A
  hgvsp: ENSP00000439673.1:p.Gly905Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2486G>A
  hgvsp: ENSP00000439837.1:p.Gly829Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2507G>A
  hgvsp: ENSP00000400411.1:p.Gly836Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3038G>A
  hgvsp: ENSP00000404296.2:p.Gly1013Glu
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1013Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

12-19506847-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506847
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506847
    reference: chr 12
allele count: 3
allele frequency: 2.47133254250692e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2725C>T
  hgvsp: ENSP00000347560.3:p.Pro909Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.394C>T
  hgvsp: ENSP00000443553.1:p.Pro132Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2518C>T
  hgvsp: ENSP00000400411.1:p.Pro840Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2497C>T
  hgvsp: ENSP00000439837.1:p.Pro833Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2725C>T
  hgvsp: ENSP00000439673.1:p.Pro909Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1825C>T
  hgvsp: ENSP00000440611.1:p.Pro609Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3049C>T
  hgvsp: ENSP00000404296.2:p.Pro1017Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2383C>T
  hgvsp: ENSP00000352104.3:p.Pro795Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2740C>T
  hgvsp: ENSP00000325155.4:p.Pro914Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2551C>T
  hgvsp: ENSP00000299275.6:p.Pro851Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2416C>T
  hgvsp: ENSP00000440371.1:p.Pro806Ser
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro1017Ser
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

12-19506850-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506850
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506850
    reference: chr 12
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2419A>G
  hgvsp: ENSP00000440371.1:p.Arg807Gly
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.397A>G
  hgvsp: ENSP00000443553.1:p.Arg133Gly
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2386A>G
  hgvsp: ENSP00000352104.3:p.Arg796Gly
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2521A>G
  hgvsp: ENSP00000400411.1:p.Arg841Gly
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2728A>G
  hgvsp: ENSP00000439673.1:p.Arg910Gly
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3052A>G
  hgvsp: ENSP00000404296.2:p.Arg1018Gly
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2500A>G
  hgvsp: ENSP00000439837.1:p.Arg834Gly
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2743A>G
  hgvsp: ENSP00000325155.4:p.Arg915Gly
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2554A>G
  hgvsp: ENSP00000299275.6:p.Arg852Gly
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1828A>G
  hgvsp: ENSP00000440611.1:p.Arg610Gly
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2728A>G
  hgvsp: ENSP00000347560.3:p.Arg910Gly
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1018Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-19506868-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506868
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506868
    reference: chr 12
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2761C>G
  hgvsp: ENSP00000325155.4:p.Pro921Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.415C>G
  hgvsp: ENSP00000443553.1:p.Pro139Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2572C>G
  hgvsp: ENSP00000299275.6:p.Pro858Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2404C>G
  hgvsp: ENSP00000352104.3:p.Pro802Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1846C>G
  hgvsp: ENSP00000440611.1:p.Pro616Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3070C>G
  hgvsp: ENSP00000404296.2:p.Pro1024Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2437C>G
  hgvsp: ENSP00000440371.1:p.Pro813Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2539C>G
  hgvsp: ENSP00000400411.1:p.Pro847Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2518C>G
  hgvsp: ENSP00000439837.1:p.Pro840Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2746C>G
  hgvsp: ENSP00000347560.3:p.Pro916Ala
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2746C>G
  hgvsp: ENSP00000439673.1:p.Pro916Ala
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1024Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

12-19506870-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506870
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506870
    reference: chr 12
allele count: 1934
allele frequency: 1.593080724876441e-2
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2439C>G
  hgvsp: ENST00000536974.1:c.2439C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.417C>G
  hgvsp: ENST00000538972.1:c.417C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2520C>G
  hgvsp: ENST00000543806.1:c.2520C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3072C>G
  hgvsp: ENST00000429027.2:c.3072C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2748C>G
  hgvsp: ENST00000538714.1:c.2748C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2763C>G
  hgvsp: ENST00000317589.4:c.2763C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2541C>G
  hgvsp: ENST00000424268.1:c.2541C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1848C>G
  hgvsp: ENST00000539256.1:c.1848C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2748C>G
  hgvsp: ENST00000355397.3:c.2748C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2406C>G
  hgvsp: ENST00000359180.3:c.2406C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2574C>G
  hgvsp: ENST00000299275.6:c.2574C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 5.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 18217
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 12563
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 5.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8113
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 9.75e1
  variant carriers: 666
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.25e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.75e1
  variant carriers: 188
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 140
genotype quality: GenotypeQuality
hgvs: p.Pro1024Pro
num of homozygotes: 168
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

12-19506870-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506870
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506870
    reference: chr 12
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2406C>T
  hgvsp: ENST00000359180.3:c.2406C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1848C>T
  hgvsp: ENST00000539256.1:c.1848C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2748C>T
  hgvsp: ENST00000355397.3:c.2748C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.417C>T
  hgvsp: ENST00000538972.1:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2574C>T
  hgvsp: ENST00000299275.6:c.2574C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3072C>T
  hgvsp: ENST00000429027.2:c.3072C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2748C>T
  hgvsp: ENST00000538714.1:c.2748C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2541C>T
  hgvsp: ENST00000424268.1:c.2541C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2763C>T
  hgvsp: ENST00000317589.4:c.2763C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2520C>T
  hgvsp: ENST00000543806.1:c.2520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2439C>T
  hgvsp: ENST00000536974.1:c.2439C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1024Pro
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

12-19506871-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506871
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506871
    reference: chr 12
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2749G>A
  hgvsp: ENSP00000347560.3:p.Glu917Lys
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3073G>A
  hgvsp: ENSP00000404296.2:p.Glu1025Lys
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2749G>A
  hgvsp: ENSP00000439673.1:p.Glu917Lys
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2542G>A
  hgvsp: ENSP00000400411.1:p.Glu848Lys
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2440G>A
  hgvsp: ENSP00000440371.1:p.Glu814Lys
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2521G>A
  hgvsp: ENSP00000439837.1:p.Glu841Lys
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2764G>A
  hgvsp: ENSP00000325155.4:p.Glu922Lys
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2407G>A
  hgvsp: ENSP00000352104.3:p.Glu803Lys
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2575G>A
  hgvsp: ENSP00000299275.6:p.Glu859Lys
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1849G>A
  hgvsp: ENSP00000440611.1:p.Glu617Lys
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.418G>A
  hgvsp: ENSP00000443553.1:p.Glu140Lys
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1025Lys
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

12-19506878-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506878
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506878
    reference: chr 12
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3080C>T
  hgvsp: ENSP00000404296.2:p.Ser1027Leu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2582C>T
  hgvsp: ENSP00000299275.6:p.Ser861Leu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2528C>T
  hgvsp: ENSP00000439837.1:p.Ser843Leu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2756C>T
  hgvsp: ENSP00000347560.3:p.Ser919Leu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2549C>T
  hgvsp: ENSP00000400411.1:p.Ser850Leu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1856C>T
  hgvsp: ENSP00000440611.1:p.Ser619Leu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2756C>T
  hgvsp: ENSP00000439673.1:p.Ser919Leu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2414C>T
  hgvsp: ENSP00000352104.3:p.Ser805Leu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2771C>T
  hgvsp: ENSP00000325155.4:p.Ser924Leu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2447C>T
  hgvsp: ENSP00000440371.1:p.Ser816Leu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.425C>T
  hgvsp: ENSP00000443553.1:p.Ser142Leu
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1027Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

12-19506879-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506879
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506879
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.426G>A
  hgvsp: ENST00000538972.1:c.426G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2583G>A
  hgvsp: ENST00000299275.6:c.2583G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2757G>A
  hgvsp: ENST00000538714.1:c.2757G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2550G>A
  hgvsp: ENST00000424268.1:c.2550G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2448G>A
  hgvsp: ENST00000536974.1:c.2448G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1857G>A
  hgvsp: ENST00000539256.1:c.1857G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2772G>A
  hgvsp: ENST00000317589.4:c.2772G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2415G>A
  hgvsp: ENST00000359180.3:c.2415G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2757G>A
  hgvsp: ENST00000355397.3:c.2757G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2529G>A
  hgvsp: ENST00000543806.1:c.2529G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3081G>A
  hgvsp: ENST00000429027.2:c.3081G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1027Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS

12-19506880-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506880
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506880
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3082A>T
  hgvsp: ENSP00000404296.2:p.Thr1028Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1858A>T
  hgvsp: ENSP00000440611.1:p.Thr620Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2758A>T
  hgvsp: ENSP00000347560.3:p.Thr920Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2416A>T
  hgvsp: ENSP00000352104.3:p.Thr806Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2449A>T
  hgvsp: ENSP00000440371.1:p.Thr817Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2758A>T
  hgvsp: ENSP00000439673.1:p.Thr920Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.427A>T
  hgvsp: ENSP00000443553.1:p.Thr143Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2773A>T
  hgvsp: ENSP00000325155.4:p.Thr925Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2530A>T
  hgvsp: ENSP00000439837.1:p.Thr844Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2551A>T
  hgvsp: ENSP00000400411.1:p.Thr851Ser
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2584A>T
  hgvsp: ENSP00000299275.6:p.Thr862Ser
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1028Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-19506890-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506890
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506890
    reference: chr 12
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2768C>T
  hgvsp: ENSP00000347560.3:p.Ser923Phe
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1868C>T
  hgvsp: ENSP00000440611.1:p.Ser623Phe
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2783C>T
  hgvsp: ENSP00000325155.4:p.Ser928Phe
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2540C>T
  hgvsp: ENSP00000439837.1:p.Ser847Phe
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2426C>T
  hgvsp: ENSP00000352104.3:p.Ser809Phe
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2561C>T
  hgvsp: ENSP00000400411.1:p.Ser854Phe
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2594C>T
  hgvsp: ENSP00000299275.6:p.Ser865Phe
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2768C>T
  hgvsp: ENSP00000439673.1:p.Ser923Phe
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.437C>T
  hgvsp: ENSP00000443553.1:p.Ser146Phe
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3092C>T
  hgvsp: ENSP00000404296.2:p.Ser1031Phe
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2459C>T
  hgvsp: ENSP00000440371.1:p.Ser820Phe
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1031Phe
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP

12-19506901-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506901
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506901
    reference: chr 12
allele count: 3
allele frequency: 2.47161759132627e-5
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2794T>C
  hgvsp: ENST00000317589.4:c.2794T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2470T>C
  hgvsp: ENST00000536974.1:c.2470T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2605T>C
  hgvsp: ENST00000299275.6:c.2605T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2551T>C
  hgvsp: ENST00000543806.1:c.2551T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3103T>C
  hgvsp: ENST00000429027.2:c.3103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2437T>C
  hgvsp: ENST00000359180.3:c.2437T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2572T>C
  hgvsp: ENST00000424268.1:c.2572T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.448T>C
  hgvsp: ENST00000538972.1:c.448T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2779T>C
  hgvsp: ENST00000355397.3:c.2779T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1879T>C
  hgvsp: ENST00000539256.1:c.1879T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2779T>C
  hgvsp: ENST00000538714.1:c.2779T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1035Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

12-19506907-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506907
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506907
    reference: chr 12
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2800A>G
  hgvsp: ENSP00000325155.4:p.Lys934Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2611A>G
  hgvsp: ENSP00000299275.6:p.Lys871Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3109A>G
  hgvsp: ENSP00000404296.2:p.Lys1037Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1885A>G
  hgvsp: ENSP00000440611.1:p.Lys629Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.454A>G
  hgvsp: ENSP00000443553.1:p.Lys152Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2785A>G
  hgvsp: ENSP00000347560.3:p.Lys929Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2578A>G
  hgvsp: ENSP00000400411.1:p.Lys860Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2785A>G
  hgvsp: ENSP00000439673.1:p.Lys929Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2443A>G
  hgvsp: ENSP00000352104.3:p.Lys815Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2476A>G
  hgvsp: ENSP00000440371.1:p.Lys826Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2557A>G
  hgvsp: ENSP00000439837.1:p.Lys853Glu
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1037Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-19506913-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506913
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506913
    reference: chr 12
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1891A>G
  hgvsp: ENSP00000440611.1:p.Lys631Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2563A>G
  hgvsp: ENSP00000439837.1:p.Lys855Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2791A>G
  hgvsp: ENSP00000347560.3:p.Lys931Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2584A>G
  hgvsp: ENSP00000400411.1:p.Lys862Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2617A>G
  hgvsp: ENSP00000299275.6:p.Lys873Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2791A>G
  hgvsp: ENSP00000439673.1:p.Lys931Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2449A>G
  hgvsp: ENSP00000352104.3:p.Lys817Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2806A>G
  hgvsp: ENSP00000325155.4:p.Lys936Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3115A>G
  hgvsp: ENSP00000404296.2:p.Lys1039Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.460A>G
  hgvsp: ENSP00000443553.1:p.Lys154Glu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2482A>G
  hgvsp: ENSP00000440371.1:p.Lys828Glu
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1039Glu
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-19506917-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506917
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506917
    reference: chr 12
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.464A>T
  hgvsp: ENSP00000443553.1:p.Lys155Met
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2795A>T
  hgvsp: ENSP00000347560.3:p.Lys932Met
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2810A>T
  hgvsp: ENSP00000325155.4:p.Lys937Met
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2453A>T
  hgvsp: ENSP00000352104.3:p.Lys818Met
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2486A>T
  hgvsp: ENSP00000440371.1:p.Lys829Met
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2567A>T
  hgvsp: ENSP00000439837.1:p.Lys856Met
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2588A>T
  hgvsp: ENSP00000400411.1:p.Lys863Met
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2621A>T
  hgvsp: ENSP00000299275.6:p.Lys874Met
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2795A>T
  hgvsp: ENSP00000439673.1:p.Lys932Met
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1895A>T
  hgvsp: ENSP00000440611.1:p.Lys632Met
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3119A>T
  hgvsp: ENSP00000404296.2:p.Lys1040Met
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Lys1040Met
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

12-19506918-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506918
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506918
    reference: chr 12
allele count: 2
allele frequency: 1.64866870002473e-5
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1896G>C
  hgvsp: ENSP00000440611.1:p.Lys632Asn
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2796G>C
  hgvsp: ENSP00000347560.3:p.Lys932Asn
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2568G>C
  hgvsp: ENSP00000439837.1:p.Lys856Asn
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2796G>C
  hgvsp: ENSP00000439673.1:p.Lys932Asn
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2811G>C
  hgvsp: ENSP00000325155.4:p.Lys937Asn
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2622G>C
  hgvsp: ENSP00000299275.6:p.Lys874Asn
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2454G>C
  hgvsp: ENSP00000352104.3:p.Lys818Asn
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3120G>C
  hgvsp: ENSP00000404296.2:p.Lys1040Asn
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2589G>C
  hgvsp: ENSP00000400411.1:p.Lys863Asn
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2487G>C
  hgvsp: ENSP00000440371.1:p.Lys829Asn
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.465G>C
  hgvsp: ENSP00000443553.1:p.Lys155Asn
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1040Asn
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: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-19506919-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506919
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506919
    reference: chr 12
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.466A>T
  hgvsp: ENSP00000443553.1:p.Met156Leu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2812A>T
  hgvsp: ENSP00000325155.4:p.Met938Leu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2623A>T
  hgvsp: ENSP00000299275.6:p.Met875Leu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2488A>T
  hgvsp: ENSP00000440371.1:p.Met830Leu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2455A>T
  hgvsp: ENSP00000352104.3:p.Met819Leu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2590A>T
  hgvsp: ENSP00000400411.1:p.Met864Leu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2797A>T
  hgvsp: ENSP00000439673.1:p.Met933Leu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1897A>T
  hgvsp: ENSP00000440611.1:p.Met633Leu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2569A>T
  hgvsp: ENSP00000439837.1:p.Met857Leu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3121A>T
  hgvsp: ENSP00000404296.2:p.Met1041Leu
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2797A>T
  hgvsp: ENSP00000347560.3:p.Met933Leu
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1041Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

12-19506924-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506924
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506924
    reference: chr 12
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2595G>C
  hgvsp: ENSP00000400411.1:p.Met865Ile
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2460G>C
  hgvsp: ENSP00000352104.3:p.Met820Ile
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2628G>C
  hgvsp: ENSP00000299275.6:p.Met876Ile
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3126G>C
  hgvsp: ENSP00000404296.2:p.Met1042Ile
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2802G>C
  hgvsp: ENSP00000347560.3:p.Met934Ile
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2574G>C
  hgvsp: ENSP00000439837.1:p.Met858Ile
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2802G>C
  hgvsp: ENSP00000439673.1:p.Met934Ile
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.471G>C
  hgvsp: ENSP00000443553.1:p.Met157Ile
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1902G>C
  hgvsp: ENSP00000440611.1:p.Met634Ile
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2817G>C
  hgvsp: ENSP00000325155.4:p.Met939Ile
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2493G>C
  hgvsp: ENSP00000440371.1:p.Met831Ile
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1042Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-19506925-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506925
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506925
    reference: chr 12
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2575G>A
  hgvsp: ENSP00000439837.1:p.Asp859Asn
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2818G>A
  hgvsp: ENSP00000325155.4:p.Asp940Asn
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2629G>A
  hgvsp: ENSP00000299275.6:p.Asp877Asn
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2461G>A
  hgvsp: ENSP00000352104.3:p.Asp821Asn
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2596G>A
  hgvsp: ENSP00000400411.1:p.Asp866Asn
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.472G>A
  hgvsp: ENSP00000443553.1:p.Asp158Asn
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2494G>A
  hgvsp: ENSP00000440371.1:p.Asp832Asn
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3127G>A
  hgvsp: ENSP00000404296.2:p.Asp1043Asn
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2803G>A
  hgvsp: ENSP00000347560.3:p.Asp935Asn
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1903G>A
  hgvsp: ENSP00000440611.1:p.Asp635Asn
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2803G>A
  hgvsp: ENSP00000439673.1:p.Asp935Asn
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1043Asn
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

12-19506932-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506932
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506932
    reference: chr 12
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2501G>C
  hgvsp: ENSP00000440371.1:p.Arg834Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2810G>C
  hgvsp: ENSP00000347560.3:p.Arg937Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2582G>C
  hgvsp: ENSP00000439837.1:p.Arg861Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.479G>C
  hgvsp: ENSP00000443553.1:p.Arg160Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2603G>C
  hgvsp: ENSP00000400411.1:p.Arg868Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1910G>C
  hgvsp: ENSP00000440611.1:p.Arg637Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2468G>C
  hgvsp: ENSP00000352104.3:p.Arg823Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2636G>C
  hgvsp: ENSP00000299275.6:p.Arg879Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2810G>C
  hgvsp: ENSP00000439673.1:p.Arg937Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3134G>C
  hgvsp: ENSP00000404296.2:p.Arg1045Thr
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2825G>C
  hgvsp: ENSP00000325155.4:p.Arg942Thr
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1045Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

12-19506935-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19506935
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 19506935
    reference: chr 12
allele count: 8
allele frequency: 6.609931421961497e-5
allele num: 121030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439673
  ensembl transcript: ENST00000538714
  gene symbol: PLEKHA5
  hgvsc: ENST00000538714.1:c.2813C>T
  hgvsp: ENSP00000439673.1:p.Thr938Met
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000443553
  ensembl transcript: ENST00000538972
  gene symbol: PLEKHA5
  hgvsc: ENST00000538972.1:c.482C>T
  hgvsp: ENSP00000443553.1:p.Thr161Met
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000404296
  ensembl transcript: ENST00000429027
  gene symbol: PLEKHA5
  hgvsc: ENST00000429027.2:c.3137C>T
  hgvsp: ENSP00000404296.2:p.Thr1046Met
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000325155
  ensembl transcript: ENST00000317589
  gene symbol: PLEKHA5
  hgvsc: ENST00000317589.4:c.2828C>T
  hgvsp: ENSP00000325155.4:p.Thr943Met
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000439837
  ensembl transcript: ENST00000543806
  gene symbol: PLEKHA5
  hgvsc: ENST00000543806.1:c.2585C>T
  hgvsp: ENSP00000439837.1:p.Thr862Met
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000299275
  ensembl transcript: ENST00000299275
  gene symbol: PLEKHA5
  hgvsc: ENST00000299275.6:c.2639C>T
  hgvsp: ENSP00000299275.6:p.Thr880Met
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000400411
  ensembl transcript: ENST00000424268
  gene symbol: PLEKHA5
  hgvsc: ENST00000424268.1:c.2606C>T
  hgvsp: ENSP00000400411.1:p.Thr869Met
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440611
  ensembl transcript: ENST00000539256
  gene symbol: PLEKHA5
  hgvsc: ENST00000539256.1:c.1913C>T
  hgvsp: ENSP00000440611.1:p.Thr638Met
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000352104
  ensembl transcript: ENST00000359180
  gene symbol: PLEKHA5
  hgvsc: ENST00000359180.3:c.2471C>T
  hgvsp: ENSP00000352104.3:p.Thr824Met
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000347560
  ensembl transcript: ENST00000355397
  gene symbol: PLEKHA5
  hgvsc: ENST00000355397.3:c.2813C>T
  hgvsp: ENSP00000347560.3:p.Thr938Met
  variant of: http://identifiers.org/hgnc/30036
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000052126
  ensembl protein: ENSP00000440371
  ensembl transcript: ENST00000536974
  gene symbol: PLEKHA5
  hgvsc: ENST00000536974.1:c.2504C>T
  hgvsp: ENSP00000440371.1:p.Thr835Met
  variant of: http://identifiers.org/hgnc/30036
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7846
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13026
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1046Met
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 303
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7261
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.282709081580298e-4
allele num: 7796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1616
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.171e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.03e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.066e0

DP
type: SiteQuality
SIO_000300: 3.00582e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.159e1

GenotypeQuality
all individuals: 6674
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 285
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 902
bin: 9.75e1
variant carriers: 39

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 6
allele frequency: 7.888509071785432e-4
allele num: 7606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 15
allele frequency: 9.422110552763818e-3
allele num: 1592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.113172106128199e-3
allele num: 8518
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

QD
type: SiteQuality
SIO_000300: 1.316e1

DP
type: SiteQuality
SIO_000300: 2.92853e5

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e-1

FS
type: SiteQuality
SIO_000300: 6.879999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.144e0

GenotypeQuality
all individuals: 216
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 170
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4748
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 822
bin: 6.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.1936022917164e-4
allele num: 8378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.158e0

DP
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SIO_000300: 2.67062e5

ClippingRankSum
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SIO_000300: -7.47e-1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

MQ
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SIO_000300: 5.739e1

MQRankSum
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SIO_000300: -7.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

QD
type: SiteQuality
SIO_000300: 3.424e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1486
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.538071065989848e-3
allele num: 394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 7.436787307882995e-4
allele num: 8068
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6708
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.237e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
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SIO_000300: 2.36782e5

FS
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SIO_000300: 1.771e0

QD
type: SiteQuality
SIO_000300: 1.45e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.72e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.559575795383656e-4
allele num: 6412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.335e1

VQSLOD
type: SiteQuality
SIO_000300: 9.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.30161e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 273
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.338771259979174e-4
allele num: 11524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
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: 10
allele frequency: 1.505253334136135e-4
allele num: 66434
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.030456852791878e-4
allele num: 9850
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

VQSLOD
type: SiteQuality
SIO_000300: 4.3e0

QD
type: SiteQuality
SIO_000300: 1.287e1

DP
type: SiteQuality
SIO_000300: 2.251412e6

GenotypeQuality
all individuals: 6132
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008966720828068e-5
allele num: 66468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9864
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.27e-1

QD
type: SiteQuality
SIO_000300: 1.542e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.77e-1

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

ReadPosRankSum
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DP
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VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

GenotypeQuality
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variant carriers: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.168224299065421e-4
allele num: 8560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.010917913465427e-4
allele num: 9892
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
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Other
type: Population
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allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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SIO_000300: 1.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.23e0

DP
type: SiteQuality
SIO_000300: 2.265551e6

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 88
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 1

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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bin: 9.75e1
variant carriers: 76

GenotypeQuality
all individuals: 15397
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6182
bin: 6.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.734003814808393e-4
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
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: 8564
num of homozygotes: 0

African
type: Population
allele count: 75
allele frequency: 7.5818843509907e-3
allele num: 9892
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.265551e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

MQRankSum
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SIO_000300: 1.76e-1

QD
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SIO_000300: 1.206e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.79e0

FS
type: SiteQuality
SIO_000300: 7.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.23e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213444970270598e-4
allele num: 16482
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

InbreedingCoeff
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SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.32e-1

FS
type: SiteQuality
SIO_000300: 2.232e0

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

BaseQRankSum
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SIO_000300: -7.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.52e-1

QD
type: SiteQuality
SIO_000300: 1.773e1

MQ
type: SiteQuality
SIO_000300: 5.944e1

DP
type: SiteQuality
SIO_000300: 2.265429e6

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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: 10122
num of homozygotes: 0

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

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: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.203e0

QD
type: SiteQuality
SIO_000300: 1.419e1

MQRankSum
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SIO_000300: 2.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.77e-1

DP
type: SiteQuality
SIO_000300: 2.273822e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.402e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.386e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212856276531231e-4
allele num: 16490
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 5.203e0

BaseQRankSum
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SIO_000300: -2.386e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -1.402e0

DP
type: SiteQuality
SIO_000300: 2.273822e6

QD
type: SiteQuality
SIO_000300: 1.419e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001290554938624e-5
allele num: 66638
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.892e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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VQSLOD
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MQRankSum
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QD
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.75e1
variant carriers: 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: 16510
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.92975685063682e-4
allele num: 10364
num of homozygotes: 0

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

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

East Asian
type: Population
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
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QD
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ReadPosRankSum
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DP
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SIO_000300: 2.277919e6

MQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 2.313e0

VQSLOD
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SIO_000300: -1.759e-1

ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.25e1
variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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MQRankSum
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VQSLOD
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QD
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DP
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FS
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

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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num of homozygotes: 0

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

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

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

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 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: 6.092360180333861e-5
allele num: 16414
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 3.4e-3

BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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MQ
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MQRankSum
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SIO_000300: 7.36e-1

QD
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SIO_000300: 1.063e1

DP
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SIO_000300: 2.274752e6

ReadPosRankSum
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SIO_000300: 7.36e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
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SIO_000300: 2.270064e6

InbreedingCoeff
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BaseQRankSum
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MQ
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QD
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VQSLOD
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ClippingRankSum
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MQRankSum
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SIO_000300: -2.28e-1

ReadPosRankSum
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SIO_000300: 1.08e0

FS
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SIO_000300: 7.81e0

GenotypeDepth
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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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ClippingRankSum
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DP
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MQRankSum
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FS
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QD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 1.56e-1

GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14412
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.697439875872769e-5
allele num: 10312
num of homozygotes: 0

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

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

VQSLOD
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QD
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DP
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BaseQRankSum
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MQRankSum
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SIO_000300: -1.53e-1

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -3.0e-4

MQ
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SIO_000300: 5.92e1

ClippingRankSum
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SIO_000300: -6.8e-1

ReadPosRankSum
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SIO_000300: -5.04e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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

Latino
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allele frequency: 4.334257975034674e-4
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65842
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African
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East Asian
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South Asian
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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MQ
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BaseQRankSum
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FS
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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African
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allele frequency: 3.880481179666278e-4
allele num: 10308
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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Latino
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South Asian
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East Asian
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African
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European (Finnish)
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QD
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InbreedingCoeff
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DP
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MQ
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MQRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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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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South Asian
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allele num: 13388
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European (Non-Finnish)
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MQRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4566
bin: 7.75e1
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GenotypeQuality
all individuals: 731
bin: 2.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12338
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.18e0

QD
type: SiteQuality
SIO_000300: 1.462e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.152897e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e0

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

GenotypeQuality
all individuals: 90
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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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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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 20019
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 8.237232289950576e-5
allele num: 12140
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65050
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.148679e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.664e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

FS
type: SiteQuality
SIO_000300: 2.102e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.315e1

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64718
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.859988168014199e-5
allele num: 10142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11652
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -3.815e-1

MQRankSum
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QD
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ClippingRankSum
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SIO_000300: -5.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 2.142151e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.24e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 5.069e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.13195977434388e-5
allele num: 16308
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
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: 66578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.32e-1

DP
type: SiteQuality
SIO_000300: 2.133585e6

QD
type: SiteQuality
SIO_000300: 1.271e1

FS
type: SiteQuality
SIO_000300: 1.173e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.245e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.37e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003995313767311e-5
allele num: 66578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.245e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.72e-1

QD
type: SiteQuality
SIO_000300: 1.271e1

FS
type: SiteQuality
SIO_000300: 1.173e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: 8.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

DP
type: SiteQuality
SIO_000300: 2.133585e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.37e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
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: 16346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.139728e6

VQSLOD
type: SiteQuality
SIO_000300: 1.66e-1

FS
type: SiteQuality
SIO_000300: 2.125e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.72e-2

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.714e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.273e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 2.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.79e-2

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.203e1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: -3.708e-1

MQ
type: SiteQuality
SIO_000300: 5.904e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 12

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

GenotypeQuality
all individuals: 1750
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variant carriers: 0

GenotypeQuality
all individuals: 4562
bin: 7.75e1
variant carriers: 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: 5
allele frequency: 3.053621595211921e-4
allele num: 16374
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: 3
allele frequency: 4.501665616278023e-5
allele num: 66642
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.592912705272256e-4
allele num: 11570
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 1.103752759381898e-3
allele num: 906
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VQSLOD
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ReadPosRankSum
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MQ
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SIO_000300: 5.965e1

MQRankSum
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SIO_000300: 4.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

FS
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SIO_000300: 3.521e0

InbreedingCoeff
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SIO_000300: -3.0e-4

BaseQRankSum
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SIO_000300: 2.21e0

QD
type: SiteQuality
SIO_000300: 1.256e1

DP
type: SiteQuality
SIO_000300: 2.148256e6

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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MQ
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BaseQRankSum
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MQRankSum
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SIO_000300: 4.75e-1

DP
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 6
allele frequency: 9.001980435695853e-5
allele num: 66652
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

Other
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InbreedingCoeff
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FS
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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MQ
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QD
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ReadPosRankSum
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SIO_000300: 9.3e-2

ClippingRankSum
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SIO_000300: -1.09e-1

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

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

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

South Asian
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allele count: 1
allele frequency: 6.0790273556231e-5
allele num: 16450
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

Other
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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
allele num: 10384
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.115e0

BaseQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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DP
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FS
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MQ
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SIO_000300: 5.862e1

QD
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ReadPosRankSum
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SIO_000300: 2.23e-1

GenotypeQuality
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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 66686
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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ClippingRankSum
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MQ
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MQRankSum
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DP
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VQSLOD
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FS
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

European (Finnish)
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QD
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DP
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

South Asian
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num of homozygotes: 0

European (Non-Finnish)
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Other
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Latino
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African
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East Asian
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European (Finnish)
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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DP
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VQSLOD
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QD
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FS
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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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Other
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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African
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East Asian
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ReadPosRankSum
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VQSLOD
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MQ
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MQRankSum
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QD
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FS
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DP
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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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: 3.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997601918465228e-5
allele num: 66720
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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VQSLOD
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SIO_000300: 6.2e-1

QD
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SIO_000300: 1.099e1

InbreedingCoeff
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DP
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ClippingRankSum
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SIO_000300: 7.8e-2

FS
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MQRankSum
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ReadPosRankSum
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SIO_000300: -4.14e-1

MQ
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SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.43e-1

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

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

South Asian
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QD
type: SiteQuality
SIO_000300: 1.06e1

BaseQRankSum
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MQ
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
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DP
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SIO_000300: 2.155279e6

ReadPosRankSum
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SIO_000300: 1.2e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8654
num of homozygotes: 0

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

Latino
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allele 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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num of homozygotes: 0

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

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

Other
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BaseQRankSum
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SIO_000300: 2.03e0

FS
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QD
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InbreedingCoeff
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VQSLOD
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DP
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MQ
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MQRankSum
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SIO_000300: -7.88e-1

ClippingRankSum
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ReadPosRankSum
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SIO_000300: 1.12e0

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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

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

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
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ReadPosRankSum
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VQSLOD
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QD
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MQ
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FS
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SIO_000300: 1.506e0

MQRankSum
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BaseQRankSum
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DP
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SIO_000300: 2.155187e6

GenotypeDepth
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variant carriers: 184

GenotypeQuality
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variant carriers: 1764

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2580
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.990919171636647e-5
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
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allele count: 14
allele frequency: 8.479709267110841e-4
allele num: 16510
num of homozygotes: 1

Other
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allele frequency: 8.830022075055188e-3
allele num: 906
num of homozygotes: 0

African
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allele frequency: 2.979050547760907e-3
allele num: 10406
num of homozygotes: 0

East Asian
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allele count: 53
allele frequency: 6.125751271382339e-3
allele num: 8652
num of homozygotes: 0

Latino
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allele count: 1822
allele frequency: 1.573674209708067e-1
allele num: 11578
num of homozygotes: 167

DP
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QD
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.924e1

GenotypeDepth
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variant carriers: 0

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

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

East Asian
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allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
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MQ
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QD
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FS
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MQRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
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allele num: 66732
num of homozygotes: 0

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

African
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South Asian
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Latino
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QD
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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MQ
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele num: 66726
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

European (Finnish)
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East Asian
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Other
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European (Non-Finnish)
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Latino
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African
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ReadPosRankSum
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MQRankSum
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QD
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FS
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VQSLOD
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ClippingRankSum
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DP
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InbreedingCoeff
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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InbreedingCoeff
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VQSLOD
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FS
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DP
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MQRankSum
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QD
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MQ
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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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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African
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Other
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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BaseQRankSum
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QD
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VQSLOD
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FS
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InbreedingCoeff
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MQ
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MQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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South 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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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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ReadPosRankSum
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QD
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VQSLOD
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BaseQRankSum
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FS
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DP
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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SIO_000300: 1.54e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele frequency: 2.314279102059708e-4
allele num: 8642
num of homozygotes: 0

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

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

African
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num of homozygotes: 0

QD
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SIO_000300: 1.463e1

MQRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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DP
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VQSLOD
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MQ
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SIO_000300: 5.943e1

ReadPosRankSum
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ClippingRankSum
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SIO_000300: -3.77e-1

GenotypeDepth
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
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allele num: 66686
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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Latino
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
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QD
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BaseQRankSum
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MQ
type: SiteQuality
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MQRankSum
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SIO_000300: -3.3e-2

FS
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SIO_000300: 4.26e0

ClippingRankSum
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SIO_000300: -8.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

DP
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SIO_000300: 2.133909e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16480
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

African
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num of homozygotes: 0

Other
type: Population
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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

MQ
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SIO_000300: 5.845e1

DP
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SIO_000300: 2.133328e6

ClippingRankSum
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SIO_000300: 5.77e-1

QD
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

South Asian
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allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

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

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

European (Non-Finnish)
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MQRankSum
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SIO_000300: -6.5e-2

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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Other
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European (Finnish)
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Latino
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InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
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BaseQRankSum
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MQ
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QD
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FS
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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GenotypeDepth
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variant carriers: 1

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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