12-80215929-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80215929
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80215929
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 40026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.834A>G
  hgvsp: ENST00000547330.1:c.834A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.573A>G
  hgvsp: ENST00000546369.1:c.573A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.577-983A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.834A>G
  hgvsp: ENST00000437004.2:c.834A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.834A>G
  hgvsp: ENST00000261207.5:c.834A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.834A>G
  hgvsp: ENST00000450142.2:c.834A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.834A>G
  hgvsp: ENST00000550107.1:c.834A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34390
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33323
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly278Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-80215935-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80215935
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80215935
    reference: chr 12
allele count: 1
allele frequency: 2.411381721726549e-5
allele num: 41470
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.828T>C
  hgvsp: ENST00000450142.2:c.828T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.828T>C
  hgvsp: ENST00000550107.1:c.828T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.567T>C
  hgvsp: ENST00000546369.1:c.567T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.828T>C
  hgvsp: ENST00000437004.2:c.828T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.828T>C
  hgvsp: ENST00000261207.5:c.828T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.828T>C
  hgvsp: ENST00000547330.1:c.828T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.577-989T>C
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile276Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

12-80215937-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80215937
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80215937
    reference: chr 12
allele count: 2
allele frequency: 4.806305873305777e-5
allele num: 41612
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.826A>G
  hgvsp: ENSP00000261207.5:p.Ile276Val
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.826A>G
  hgvsp: ENSP00000446855.1:p.Ile276Val
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.826A>G
  hgvsp: ENSP00000389168.2:p.Ile276Val
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.565A>G
  hgvsp: ENSP00000449514.1:p.Ile189Val
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.826A>G
  hgvsp: ENSP00000416769.2:p.Ile276Val
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.826A>G
  hgvsp: ENSP00000446816.1:p.Ile276Val
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.577-991A>G
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34099
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33296
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5163
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile276Val
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

12-80215950-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80215950
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80215950
    reference: chr 12
allele count: 1
allele frequency: 2.303935121186987e-5
allele num: 43404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.552A>G
  hgvsp: ENST00000546369.1:c.552A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.813A>G
  hgvsp: ENST00000450142.2:c.813A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.813A>G
  hgvsp: ENST00000550107.1:c.813A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.813A>G
  hgvsp: ENST00000261207.5:c.813A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.813A>G
  hgvsp: ENST00000437004.2:c.813A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.577-1004A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.813A>G
  hgvsp: ENST00000547330.1:c.813A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33865
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val271Val
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

12-80215962-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80215962
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80215962
    reference: chr 12
allele count: 1
allele frequency: 2.281854691493246e-5
allele num: 43824
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.540A>G
  hgvsp: ENST00000546369.1:c.540A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.801A>G
  hgvsp: ENST00000261207.5:c.801A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.801A>G
  hgvsp: ENST00000547330.1:c.801A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.801A>G
  hgvsp: ENST00000450142.2:c.801A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.801A>G
  hgvsp: ENST00000437004.2:c.801A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.577-1016A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.801A>G
  hgvsp: ENST00000550107.1:c.801A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32519
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5768
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr267Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-80215974-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80215974
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80215974
    reference: chr 12
allele count: 2
allele frequency: 4.563084645220169e-5
allele num: 43830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.793-4G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.793-4G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.532-4G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.793-4G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.577-1028G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.793-4G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.793-4G>A
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30957
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6681
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7047
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7257
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33065
  bin: 2.25e1
  variant carriers: 0
hgvs: c.793-4G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-80215975-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80215975
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80215975
    reference: chr 12
allele count: 1
allele frequency: 2.282896539128847e-5
allele num: 43804
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.793-5C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.793-5C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.793-5C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.532-5C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.577-1029C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.793-5C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.793-5C>T
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30777
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7446
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
hgvs: c.793-5C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

12-80215986-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80215986
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80215986
    reference: chr 12
allele count: 1
allele frequency: 2.334376021289509e-5
allele num: 42838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.793-16C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.793-16C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.793-16C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.532-16C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.577-1040C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.793-16C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.793-16C>T
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9944
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7998
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28279
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3181
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10397
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

12-80215989-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80215989
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80215989
    reference: chr 12
allele count: 2
allele frequency: 4.689991558015196e-5
allele num: 42644
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.793-19C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.793-19C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.793-19C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.577-1043C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.793-19C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.793-19C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.532-19C>G
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10974
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11547
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29222
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

12-80215993-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80215993
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80215993
    reference: chr 12
allele count: 1
allele frequency: 2.385610000477122e-5
allele num: 41918
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.577-1047A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.793-23A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.532-23A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.793-23A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.793-23A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.793-23A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.793-23A>G
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12596
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8304
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13305
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27052
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

12-80215999-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80215999
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80215999
    reference: chr 12
allele count: 1
allele frequency: 2.516229681445322e-5
allele num: 39742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.577-1053A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.532-29A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.793-29A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.793-29A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.793-29A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.793-29A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.793-29A>G
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14971
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3652
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4516
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/12-80216003-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80216003
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80216001
    reference: chr 12
allele count: 1
allele frequency: 2.607018092705563e-5
allele num: 38358
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.793-35_793-34delTT
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.793-35_793-34delTT
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.577-1059_577-1058delTT
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.793-35_793-34delTT
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.532-35_532-34delTT
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.793-35_793-34delTT
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.793-35_793-34delTT
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4364
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4155
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: CAA
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

12-80216006-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80216006
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80216006
    reference: chr 12
allele count: 2
allele frequency: 5.415357955160836e-5
allele num: 36932
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.793-36T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.793-36T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.577-1060T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.793-36T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.793-36T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.532-36T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.793-36T>C
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24499
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3793
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5273
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17780
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-80216008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80216008
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80216008
    reference: chr 12
allele count: 1
allele frequency: 2.735229759299781e-5
allele num: 36560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.577-1062C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.793-38C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.793-38C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.532-38C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.793-38C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.793-38C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.793-38C>T
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16699
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5515
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

12-80222055-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222055
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222055
    reference: chr 12
allele count: 1
allele frequency: 8.661008141347653e-6
allele num: 115460
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.792+45T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.792+45T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.792+45T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.576+45T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.792+45T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.455T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.792+45T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.531+45T>C
  variant of: http://identifiers.org/hgnc/7618
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15330
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

12-80222056-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222056
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222056
    reference: chr 12
allele count: 1
allele frequency: 8.658908284843448e-6
allele num: 115488
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.792+44A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.792+44A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.531+44A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.792+44A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.454A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.576+44A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.792+44A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.792+44A>G
  variant of: http://identifiers.org/hgnc/7618
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

12-80222072-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222072
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222072
    reference: chr 12
allele count: 1
allele frequency: 8.469551960701279e-6
allele num: 118070
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.438T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.531+28T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.792+28T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.576+28T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.792+28T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.792+28T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.792+28T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.792+28T>C
  variant of: http://identifiers.org/hgnc/7618
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

12-80222073-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222073
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222073
    reference: chr 12
allele count: 1
allele frequency: 8.462671157524161e-6
allele num: 118166
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.792+27C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.792+27C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.792+27C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.792+27C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.792+27C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.576+27C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.437C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.531+27C>G
  variant of: http://identifiers.org/hgnc/7618
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

12-80222081-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222081
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222081
    reference: chr 12
allele count: 1
allele frequency: 8.391796180054379e-6
allele num: 119164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.576+19T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.792+19T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.792+19T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.792+19T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.429T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.792+19T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.792+19T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.531+19T>C
  variant of: http://identifiers.org/hgnc/7618
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

12-80222084-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222084
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222084
    reference: chr 12
allele count: 4
allele frequency: 3.34924223394457e-5
allele num: 119430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.792+16G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.576+16G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.792+16G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.792+16G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.792+16G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.426G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.531+16G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.792+16G>A
  variant of: http://identifiers.org/hgnc/7618
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8357
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

12-80222085-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222085
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222085
    reference: chr 12
allele count: 2
allele frequency: 1.672045078335312e-5
allele num: 119614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.792+15C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.792+15C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.576+15C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.425C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.531+15C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.792+15C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.792+15C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.792+15C>T
  variant of: http://identifiers.org/hgnc/7618
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22288
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7579
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-80222087-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222087
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222087
    reference: chr 12
allele count: 1
allele frequency: 8.350172848577966e-6
allele num: 119758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.792+13A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.792+13A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.576+13A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.531+13A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.423A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.792+13A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.792+13A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.792+13A>G
  variant of: http://identifiers.org/hgnc/7618
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-80222093-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222093
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222093
    reference: chr 12
allele count: 1
allele frequency: 8.328752519447637e-6
allele num: 120066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.792+7G>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.576+7G>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.531+7G>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.792+7G>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.792+7G>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.792+7G>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.417G>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.792+7G>T
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
hgvs: c.792+7G>T
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

12-80222094-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222094
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222094
    reference: chr 12
allele count: 1
allele frequency: 8.323483877411729e-6
allele num: 120142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.576+6C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.792+6C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.792+6C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.792+6C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.531+6C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.416C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.792+6C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.792+6C>T
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
hgvs: c.792+6C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-80222119-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222119
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222119
    reference: chr 12
allele count: 2
allele frequency: 1.659282857948795e-5
allele num: 120534
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.773T>C
  hgvsp: ENSP00000446855.1:p.Met258Thr
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.773T>C
  hgvsp: ENSP00000416769.2:p.Met258Thr
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.557T>C
  hgvsp: ENSP00000447338.1:p.Met186Thr
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.512T>C
  hgvsp: ENSP00000449514.1:p.Met171Thr
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.773T>C
  hgvsp: ENSP00000389168.2:p.Met258Thr
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.391T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.773T>C
  hgvsp: ENSP00000261207.5:p.Met258Thr
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.773T>C
  hgvsp: ENSP00000446816.1:p.Met258Thr
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met258Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

12-80222127-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222127
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222127
    reference: chr 12
allele count: 1
allele frequency: 8.295863682367972e-6
allele num: 120542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.765G>A
  hgvsp: ENST00000550107.1:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.765G>A
  hgvsp: ENST00000437004.2:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.504G>A
  hgvsp: ENST00000546369.1:c.504G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.549G>A
  hgvsp: ENST00000550510.1:c.549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.765G>A
  hgvsp: ENST00000547330.1:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.765G>A
  hgvsp: ENST00000450142.2:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.765G>A
  hgvsp: ENST00000261207.5:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.383G>A
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu255Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

12-80222130-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222130
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222130
    reference: chr 12
allele count: 1
allele frequency: 8.29462508294625e-6
allele num: 120560
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.501T>C
  hgvsp: ENST00000546369.1:c.501T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.762T>C
  hgvsp: ENST00000261207.5:c.762T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.762T>C
  hgvsp: ENST00000450142.2:c.762T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.762T>C
  hgvsp: ENST00000550107.1:c.762T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.546T>C
  hgvsp: ENST00000550510.1:c.546T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.762T>C
  hgvsp: ENST00000547330.1:c.762T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.762T>C
  hgvsp: ENST00000437004.2:c.762T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.380T>C
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn254Asn
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-80222131-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222131
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222131
    reference: chr 12
allele count: 2
allele frequency: 1.65892501658925e-5
allele num: 120560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.761A>G
  hgvsp: ENSP00000261207.5:p.Asn254Ser
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.545A>G
  hgvsp: ENSP00000447338.1:p.Asn182Ser
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.500A>G
  hgvsp: ENSP00000449514.1:p.Asn167Ser
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.761A>G
  hgvsp: ENSP00000389168.2:p.Asn254Ser
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.379A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.761A>G
  hgvsp: ENSP00000446816.1:p.Asn254Ser
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.761A>G
  hgvsp: ENSP00000416769.2:p.Asn254Ser
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.761A>G
  hgvsp: ENSP00000446855.1:p.Asn254Ser
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn254Ser
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-80222146-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222146
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222146
    reference: chr 12
allele count: 1
allele frequency: 8.295450774795103e-6
allele num: 120548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.530G>T
  hgvsp: ENSP00000447338.1:p.Arg177Leu
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.746G>T
  hgvsp: ENSP00000446855.1:p.Arg249Leu
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.746G>T
  hgvsp: ENSP00000261207.5:p.Arg249Leu
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.746G>T
  hgvsp: ENSP00000416769.2:p.Arg249Leu
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.364G>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.485G>T
  hgvsp: ENSP00000449514.1:p.Arg162Leu
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.746G>T
  hgvsp: ENSP00000389168.2:p.Arg249Leu
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.746G>T
  hgvsp: ENSP00000446816.1:p.Arg249Leu
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25573
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg249Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

12-80222146-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222146
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222146
    reference: chr 12
allele count: 2
allele frequency: 1.659090154959021e-5
allele num: 120548
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.530G>A
  hgvsp: ENSP00000447338.1:p.Arg177Gln
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.485G>A
  hgvsp: ENSP00000449514.1:p.Arg162Gln
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.746G>A
  hgvsp: ENSP00000446816.1:p.Arg249Gln
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.364G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.746G>A
  hgvsp: ENSP00000261207.5:p.Arg249Gln
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.746G>A
  hgvsp: ENSP00000416769.2:p.Arg249Gln
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.746G>A
  hgvsp: ENSP00000446855.1:p.Arg249Gln
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.746G>A
  hgvsp: ENSP00000389168.2:p.Arg249Gln
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8419
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg249Gln
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-80222148-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222148
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222148
    reference: chr 12
allele count: 1
allele frequency: 8.295450774795103e-6
allele num: 120548
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.483T>C
  hgvsp: ENST00000546369.1:c.483T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.744T>C
  hgvsp: ENST00000261207.5:c.744T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.362T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.744T>C
  hgvsp: ENST00000550107.1:c.744T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.528T>C
  hgvsp: ENST00000550510.1:c.528T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.744T>C
  hgvsp: ENST00000437004.2:c.744T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.744T>C
  hgvsp: ENST00000547330.1:c.744T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.744T>C
  hgvsp: ENST00000450142.2:c.744T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys248Cys
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

12-80222151-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222151
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222151
    reference: chr 12
allele count: 1
allele frequency: 8.296414289743973e-6
allele num: 120534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.741A>T
  hgvsp: ENST00000437004.2:c.741A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.291A>T
  hgvsp: ENST00000548318.1:c.291A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.480A>T
  hgvsp: ENST00000546369.1:c.480A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.741A>T
  hgvsp: ENST00000550107.1:c.741A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.741A>T
  hgvsp: ENST00000547330.1:c.741A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.741A>T
  hgvsp: ENST00000261207.5:c.741A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.525A>T
  hgvsp: ENST00000550510.1:c.525A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.359A>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.741A>T
  hgvsp: ENST00000450142.2:c.741A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46151
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala247Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

12-80222151-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222151
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222151
    reference: chr 12
allele count: 1
allele frequency: 8.296414289743973e-6
allele num: 120534
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.525A>G
  hgvsp: ENST00000550510.1:c.525A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.741A>G
  hgvsp: ENST00000450142.2:c.741A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.291A>G
  hgvsp: ENST00000548318.1:c.291A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.741A>G
  hgvsp: ENST00000261207.5:c.741A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.359A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.741A>G
  hgvsp: ENST00000437004.2:c.741A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.480A>G
  hgvsp: ENST00000546369.1:c.480A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.741A>G
  hgvsp: ENST00000547330.1:c.741A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.741A>G
  hgvsp: ENST00000550107.1:c.741A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25571
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala247Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

12-80222164-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222164
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222164
    reference: chr 12
allele count: 2
allele frequency: 1.659695943703114e-5
allele num: 120504
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.278G>A
  hgvsp: ENSP00000449843.1:p.Gly93Asp
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.728G>A
  hgvsp: ENSP00000446816.1:p.Gly243Asp
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.728G>A
  hgvsp: ENSP00000416769.2:p.Gly243Asp
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.512G>A
  hgvsp: ENSP00000447338.1:p.Gly171Asp
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.728G>A
  hgvsp: ENSP00000389168.2:p.Gly243Asp
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.346G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.467G>A
  hgvsp: ENSP00000449514.1:p.Gly156Asp
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.728G>A
  hgvsp: ENSP00000261207.5:p.Gly243Asp
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.728G>A
  hgvsp: ENSP00000446855.1:p.Gly243Asp
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly243Asp
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-80222169-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222169
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222169
    reference: chr 12
allele count: 1
allele frequency: 8.30137304710199e-6
allele num: 120462
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.273T>C
  hgvsp: ENST00000548318.1:c.273T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.462T>C
  hgvsp: ENST00000546369.1:c.462T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.341T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.507T>C
  hgvsp: ENST00000550510.1:c.507T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.723T>C
  hgvsp: ENST00000437004.2:c.723T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.723T>C
  hgvsp: ENST00000450142.2:c.723T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.723T>C
  hgvsp: ENST00000547330.1:c.723T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.723T>C
  hgvsp: ENST00000261207.5:c.723T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.723T>C
  hgvsp: ENST00000550107.1:c.723T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His241His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

12-80222173-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222173
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222173
    reference: chr 12
allele count: 2
allele frequency: 1.660577881102624e-5
allele num: 120440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.719C>T
  hgvsp: ENSP00000416769.2:p.Ala240Val
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.269C>T
  hgvsp: ENSP00000449843.1:p.Ala90Val
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.719C>T
  hgvsp: ENSP00000446855.1:p.Ala240Val
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.458C>T
  hgvsp: ENSP00000449514.1:p.Ala153Val
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.719C>T
  hgvsp: ENSP00000446816.1:p.Ala240Val
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.719C>T
  hgvsp: ENSP00000389168.2:p.Ala240Val
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.719C>T
  hgvsp: ENSP00000261207.5:p.Ala240Val
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.503C>T
  hgvsp: ENSP00000447338.1:p.Ala168Val
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.337C>T
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala240Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

12-80222181-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222181
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222181
    reference: chr 12
allele count: 1
allele frequency: 8.307303781484682e-6
allele num: 120376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.711T>C
  hgvsp: ENST00000547330.1:c.711T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.450T>C
  hgvsp: ENST00000546369.1:c.450T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.261T>C
  hgvsp: ENST00000548318.1:c.261T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.495T>C
  hgvsp: ENST00000550510.1:c.495T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.711T>C
  hgvsp: ENST00000550107.1:c.711T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.711T>C
  hgvsp: ENST00000261207.5:c.711T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.711T>C
  hgvsp: ENST00000437004.2:c.711T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.711T>C
  hgvsp: ENST00000450142.2:c.711T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.329T>C
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7651
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His237His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

12-80222186-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222186
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222186
    reference: chr 12
allele count: 1
allele frequency: 8.312275568559649e-6
allele num: 120304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.256C>T
  hgvsp: ENSP00000449843.1:p.Leu86Phe
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.490C>T
  hgvsp: ENSP00000447338.1:p.Leu164Phe
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.706C>T
  hgvsp: ENSP00000446816.1:p.Leu236Phe
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.706C>T
  hgvsp: ENSP00000261207.5:p.Leu236Phe
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.445C>T
  hgvsp: ENSP00000449514.1:p.Leu149Phe
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.706C>T
  hgvsp: ENSP00000416769.2:p.Leu236Phe
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.324C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.706C>T
  hgvsp: ENSP00000389168.2:p.Leu236Phe
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.706C>T
  hgvsp: ENSP00000446855.1:p.Leu236Phe
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2416
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu236Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

12-80222213-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222213
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222213
    reference: chr 12
allele count: 2
allele frequency: 1.668947561667613e-5
allele num: 119836
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.679A>C
  hgvsp: ENSP00000446855.1:p.Ile227Leu
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.229A>C
  hgvsp: ENSP00000449843.1:p.Ile77Leu
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.418A>C
  hgvsp: ENSP00000449514.1:p.Ile140Leu
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.679A>C
  hgvsp: ENSP00000416769.2:p.Ile227Leu
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.297A>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.679A>C
  hgvsp: ENSP00000261207.5:p.Ile227Leu
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.679A>C
  hgvsp: ENSP00000446816.1:p.Ile227Leu
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.679A>C
  hgvsp: ENSP00000389168.2:p.Ile227Leu
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.463A>C
  hgvsp: ENSP00000447338.1:p.Ile155Leu
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile227Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

12-80222219-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222219
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222219
    reference: chr 12
allele count: 2
allele frequency: 1.673528132007899e-5
allele num: 119508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.412G>A
  hgvsp: ENSP00000449514.1:p.Val138Ile
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.291G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.457G>A
  hgvsp: ENSP00000447338.1:p.Val153Ile
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.673G>A
  hgvsp: ENSP00000446816.1:p.Val225Ile
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.673G>A
  hgvsp: ENSP00000416769.2:p.Val225Ile
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.673G>A
  hgvsp: ENSP00000261207.5:p.Val225Ile
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.673G>A
  hgvsp: ENSP00000446855.1:p.Val225Ile
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.673G>A
  hgvsp: ENSP00000389168.2:p.Val225Ile
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.223G>A
  hgvsp: ENSP00000449843.1:p.Val75Ile
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val225Ile
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

12-80222231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222231
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222231
    reference: chr 12
allele count: 1
allele frequency: 8.479894170920747e-6
allele num: 117926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.661G>A
  hgvsp: ENSP00000446855.1:p.Ala221Thr
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.661G>A
  hgvsp: ENSP00000446816.1:p.Ala221Thr
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.445G>A
  hgvsp: ENSP00000447338.1:p.Ala149Thr
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.661G>A
  hgvsp: ENSP00000389168.2:p.Ala221Thr
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.400G>A
  hgvsp: ENSP00000449514.1:p.Ala134Thr
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.211G>A
  hgvsp: ENSP00000449843.1:p.Ala71Thr
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.661G>A
  hgvsp: ENSP00000416769.2:p.Ala221Thr
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.661G>A
  hgvsp: ENSP00000261207.5:p.Ala221Thr
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.279G>A
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala221Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

12-80222233-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222233
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222233
    reference: chr 12
allele count: 1
allele frequency: 8.511362669163334e-6
allele num: 117490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.659A>T
  hgvsp: ENSP00000261207.5:p.Gln220Leu
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.659A>T
  hgvsp: ENSP00000389168.2:p.Gln220Leu
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.209A>T
  hgvsp: ENSP00000449843.1:p.Gln70Leu
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.659A>T
  hgvsp: ENSP00000446816.1:p.Gln220Leu
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.398A>T
  hgvsp: ENSP00000449514.1:p.Gln133Leu
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.659A>T
  hgvsp: ENSP00000416769.2:p.Gln220Leu
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.277A>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.659A>T
  hgvsp: ENSP00000446855.1:p.Gln220Leu
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.443A>T
  hgvsp: ENSP00000447338.1:p.Gln148Leu
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln220Leu
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-80222252-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222252
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222252
    reference: chr 12
allele count: 1
allele frequency: 9.078694120637687e-6
allele num: 110148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.198-8T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.387-8T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.648-8T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.648-8T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.648-8T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.266-8T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.432-8T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.648-8T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.648-8T>G
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
hgvs: c.648-8T>G
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

12-80222257-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222257
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222257
    reference: chr 12
allele count: 1
allele frequency: 9.090578524417294e-6
allele num: 110004
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.387-13G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.648-13G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.198-13G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.648-13G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.432-13G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.648-13G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.648-13G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.648-13G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.266-13G>A
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15490
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

12-80222258-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222258
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222258
    reference: chr 12
allele count: 6
allele frequency: 5.47805127455993e-5
allele num: 109528
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.648-14T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.648-14T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.432-14T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.266-14T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.648-14T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.648-14T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.387-14T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.198-14T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.648-14T>C
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12932
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14957
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16941
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12780
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4055
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

12-80222260-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222260
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222260
    reference: chr 12
allele count: 1
allele frequency: 9.156670634557275e-6
allele num: 109210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.648-16A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.648-16A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.648-16A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.648-16A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.648-16A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.432-16A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.198-16A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.387-16A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.266-16A>G
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14645
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

12-80222264-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222264
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222264
    reference: chr 12
allele count: 1
allele frequency: 9.240265380421725e-6
allele num: 108222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.387-20A>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.648-20A>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.648-20A>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.648-20A>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.198-20A>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.266-20A>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.432-20A>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.648-20A>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.648-20A>C
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13094
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

12-80222265-TAGAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222265
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222261
    reference: chr 12
allele count: 1
allele frequency: 9.287983207326361e-6
allele num: 107666
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.387-25_387-22delGTCT
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.266-25_266-22delGTCT
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.648-25_648-22delGTCT
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.198-25_198-22delGTCT
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.648-25_648-22delGTCT
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.648-25_648-22delGTCT
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.648-25_648-22delGTCT
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.432-25_432-22delGTCT
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.648-25_648-22delGTCT
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13048
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4968
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15074
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: TAGAC
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

12-80222267-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222267
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222267
    reference: chr 12
allele count: 2
allele frequency: 1.8627524029506e-5
allele num: 107368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.432-23C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.648-23C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.266-23C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.648-23C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.198-23C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.648-23C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.648-23C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.387-23C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.648-23C>G
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18095
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-80222268-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222268
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222267
    reference: chr 12
allele count: 1
allele frequency: 9.359965555326756e-6
allele num: 106838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.198-25delG
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.648-25delG
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.648-25delG
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.648-25delG
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.432-25delG
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.648-25delG
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.266-25delG
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.387-25delG
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.648-25delG
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6937
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15637
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4582
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: AC
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

12-80222271-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222271
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222271
    reference: chr 12
allele count: 1
allele frequency: 9.481728708778184e-6
allele num: 105466
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.432-27T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.198-27T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.648-27T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.648-27T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.266-27T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.387-27T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.648-27T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.648-27T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.648-27T>C
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9421
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15754
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7087
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4314
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

12-80222275-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222275
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222275
    reference: chr 12
allele count: 6
allele frequency: 5.727158184109045e-5
allele num: 104764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.648-31A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.198-31A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.266-31A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.648-31A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.648-31A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.648-31A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.432-31A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.648-31A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.387-31A>G
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8489
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8811
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10353
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15958
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-80222276-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222276
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222275
    reference: chr 12
allele count: 1
allele frequency: 9.573042312847023e-6
allele num: 104460
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.648-33delT
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.387-33delT
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.432-33delT
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.648-33delT
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.648-33delT
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.198-33delT
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.266-33delT
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.648-33delT
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.648-33delT
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: TA
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-80222282-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222282
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222282
    reference: chr 12
allele count: 5
allele frequency: 4.913039206052864e-5
allele num: 101770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.266-38G>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.198-38G>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.648-38G>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.432-38G>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.648-38G>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.648-38G>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.387-38G>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.648-38G>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.648-38G>T
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14676
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14918
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-80222283-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80222283
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80222283
    reference: chr 12
allele count: 1
allele frequency: 9.892566725362563e-6
allele num: 101086
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.198-39A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.648-39A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.648-39A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.648-39A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.387-39A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.266-39A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.432-39A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.648-39A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.648-39A>G
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19135
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-80226067-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80226067
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80226067
    reference: chr 12
allele count: 2
allele frequency: 1.697475853405985e-5
allele num: 117822
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.647+45C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.431+45C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.647+45C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.647+45C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.647+45C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.197+45C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.647+45C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.265+45C>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.386+45C>G
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-80226068-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80226068
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80226068
    reference: chr 12
allele count: 7
allele frequency: 5.936026593399138e-5
allele num: 117924
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.647+44T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.386+44T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.647+44T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.431+44T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.265+44T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.197+44T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.647+44T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.647+44T>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.647+44T>C
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12895
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18076
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

12-80226070-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80226070
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80226070
    reference: chr 12
allele count: 1
allele frequency: 8.484210883545722e-6
allele num: 117866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.431+42C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.197+42C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.647+42C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.265+42C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.386+42C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.647+42C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.647+42C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.647+42C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.647+42C>T
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-80226080-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80226080
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80226080
    reference: chr 12
allele count: 1
allele frequency: 8.460666362082677e-6
allele num: 118194
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.647+32T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.197+32T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.647+32T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.265+32T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.647+32T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.431+32T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.647+32T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.647+32T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.386+32T>G
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP

12-80226082-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80226082
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80226082
    reference: chr 12
allele count: 1
allele frequency: 8.453657052040712e-6
allele num: 118292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.647+30A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.431+30A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.647+30A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.647+30A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.386+30A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.265+30A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.647+30A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.197+30A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.647+30A>G
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15114
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4413
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4163
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-80226089-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80226089
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80226087
    reference: chr 12
allele count: 1
allele frequency: 8.427581789681268e-6
allele num: 118658
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.647+21_647+22delAG
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.431+21_431+22delAG
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.647+21_647+22delAG
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.647+21_647+22delAG
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.386+21_386+22delAG
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.265+21_265+22delAG
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.647+21_647+22delAG
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.197+21_197+22delAG
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.647+21_647+22delAG
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4164
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3467
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: ACT
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

12-80226091-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80226091
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80226091
    reference: chr 12
allele count: 1
allele frequency: 8.414816809438059e-6
allele num: 118838
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.386+21A>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.647+21A>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.197+21A>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.647+21A>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.647+21A>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.647+21A>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.431+21A>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.265+21A>C
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.647+21A>C
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16500
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

12-80226093-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80226093
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80226093
    reference: chr 12
allele count: 2
allele frequency: 1.680502806439687e-5
allele num: 119012
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.265+19A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.647+19A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.647+19A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.197+19A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.647+19A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.647+19A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.647+19A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.431+19A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.386+19A>G
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16737
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-80226095-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80226095
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80226095
    reference: chr 12
allele count: 1
allele frequency: 8.392500461587526e-6
allele num: 119154
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.647+17A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.265+17A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.197+17A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.647+17A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.431+17A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.647+17A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.647+17A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.386+17A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.647+17A>G
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6513
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-80226101-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80226101
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80226101
    reference: chr 12
allele count: 1
allele frequency: 8.358408559010364e-6
allele num: 119640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.647+11T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.647+11T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.386+11T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.431+11T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.197+11T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.647+11T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.647+11T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.647+11T>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.265+11T>G
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3470
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

12-80226120-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80226120
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80226120
    reference: chr 12
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.639A>G
  hgvsp: ENST00000547330.1:c.639A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.639A>G
  hgvsp: ENST00000550107.1:c.639A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.423A>G
  hgvsp: ENST00000550510.1:c.423A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.378A>G
  hgvsp: ENST00000546369.1:c.378A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.639A>G
  hgvsp: ENST00000437004.2:c.639A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.189A>G
  hgvsp: ENST00000548318.1:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.639A>G
  hgvsp: ENST00000261207.5:c.639A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.257A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.639A>G
  hgvsp: ENST00000450142.2:c.639A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11899
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18534
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu213Glu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

12-80226121-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80226121
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80226121
    reference: chr 12
allele count: 1
allele frequency: 8.298892927683448e-6
allele num: 120498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.638A>T
  hgvsp: ENSP00000416769.2:p.Glu213Val
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.638A>T
  hgvsp: ENSP00000261207.5:p.Glu213Val
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.256A>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.377A>T
  hgvsp: ENSP00000449514.1:p.Glu126Val
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.188A>T
  hgvsp: ENSP00000449843.1:p.Glu63Val
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.422A>T
  hgvsp: ENSP00000447338.1:p.Glu141Val
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.638A>T
  hgvsp: ENSP00000446855.1:p.Glu213Val
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.638A>T
  hgvsp: ENSP00000446816.1:p.Glu213Val
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.638A>T
  hgvsp: ENSP00000389168.2:p.Glu213Val
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18065
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu213Val
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-80226123-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80226123
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80226123
    reference: chr 12
allele count: 3
allele frequency: 2.489502597381043e-5
allele num: 120506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.254G>A
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.186G>A
  hgvsp: ENST00000548318.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.636G>A
  hgvsp: ENST00000261207.5:c.636G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.420G>A
  hgvsp: ENST00000550510.1:c.420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.375G>A
  hgvsp: ENST00000546369.1:c.375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.636G>A
  hgvsp: ENST00000550107.1:c.636G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.636G>A
  hgvsp: ENST00000547330.1:c.636G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.636G>A
  hgvsp: ENST00000450142.2:c.636G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.636G>A
  hgvsp: ENST00000437004.2:c.636G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr212Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

12-80226124-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80226124
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80226124
    reference: chr 12
allele count: 10
allele frequency: 8.296138976920142e-5
allele num: 120538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.374C>T
  hgvsp: ENSP00000449514.1:p.Thr125Met
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.185C>T
  hgvsp: ENSP00000449843.1:p.Thr62Met
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.635C>T
  hgvsp: ENSP00000261207.5:p.Thr212Met
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.253C>T
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.635C>T
  hgvsp: ENSP00000389168.2:p.Thr212Met
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.635C>T
  hgvsp: ENSP00000416769.2:p.Thr212Met
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.635C>T
  hgvsp: ENSP00000446816.1:p.Thr212Met
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.419C>T
  hgvsp: ENSP00000447338.1:p.Thr140Met
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.635C>T
  hgvsp: ENSP00000446855.1:p.Thr212Met
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18068
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr212Met
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

12-80226125-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80226125
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80226125
    reference: chr 12
allele count: 1
allele frequency: 8.295037908323241e-6
allele num: 120554
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446816
  ensembl transcript: ENST00000547330
  gene symbol: PPP1R12A
  hgvsc: ENST00000547330.1:c.634A>G
  hgvsp: ENSP00000446816.1:p.Thr212Ala
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449514
  ensembl transcript: ENST00000546369
  gene symbol: PPP1R12A
  hgvsc: ENST00000546369.1:c.373A>G
  hgvsp: ENSP00000449514.1:p.Thr125Ala
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000389168
  ensembl transcript: ENST00000450142
  gene symbol: PPP1R12A
  hgvsc: ENST00000450142.2:c.634A>G
  hgvsp: ENSP00000389168.2:p.Thr212Ala
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000058272
  ensembl transcript: ENST00000551191
  gene symbol: PPP1R12A
  hgvsc: ENST00000551191.1:n.252A>G
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000261207
  ensembl transcript: ENST00000261207
  gene symbol: PPP1R12A
  hgvsc: ENST00000261207.5:c.634A>G
  hgvsp: ENSP00000261207.5:p.Thr212Ala
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000449843
  ensembl transcript: ENST00000548318
  gene symbol: PPP1R12A
  hgvsc: ENST00000548318.1:c.184A>G
  hgvsp: ENSP00000449843.1:p.Thr62Ala
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000416769
  ensembl transcript: ENST00000437004
  gene symbol: PPP1R12A
  hgvsc: ENST00000437004.2:c.634A>G
  hgvsp: ENSP00000416769.2:p.Thr212Ala
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000447338
  ensembl transcript: ENST00000550510
  gene symbol: PPP1R12A
  hgvsc: ENST00000550510.1:c.418A>G
  hgvsp: ENSP00000447338.1:p.Thr140Ala
  variant of: http://identifiers.org/hgnc/7618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000058272
  ensembl protein: ENSP00000446855
  ensembl transcript: ENST00000550107
  gene symbol: PPP1R12A
  hgvsc: ENST00000550107.1:c.634A>G
  hgvsp: ENSP00000446855.1:p.Thr212Ala
  variant of: http://identifiers.org/hgnc/7618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr212Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

12-80226146-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80226146
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 80226146
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: T
canonical: true
consequence: missense
filter: PASS
hgvs: p.Val205Ile
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 339
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9181
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5618
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3180
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 482
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19958
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1644
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.558e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

DP
type: SiteQuality
SIO_000300: 9.26559e5

QD
type: SiteQuality
SIO_000300: 1.045e1

GenotypeQuality
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3181
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1374
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33916
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 884
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.816491667469415e-5
allele num: 20762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2796
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.329000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

MQRankSum
type: SiteQuality
SIO_000300: -4.01e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.548e-1

DP
type: SiteQuality
SIO_000300: 9.37767e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-2

QD
type: SiteQuality
SIO_000300: 1.085e1

GenotypeQuality
all individuals: 383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1959
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9348
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3182
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 710
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.26295541977823e-4
allele num: 8838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20840
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.27e-1

QD
type: SiteQuality
SIO_000300: 1.039e1

MQRankSum
type: SiteQuality
SIO_000300: -6.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.44e-1

FS
type: SiteQuality
SIO_000300: 7.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.13e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.37203e5

GenotypeQuality
all individuals: 710
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1475
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5003
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9831
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3181
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1996
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.579593332112108e-5
allele num: 21836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2932
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.177e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 9.45022e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

GenotypeQuality
all individuals: 573
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 149
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8989
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3181
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 762
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1724
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1361
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.525296406914653e-5
allele num: 22098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2888
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 9.35747e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.85e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

GenotypeQuality
all individuals: 119
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3184
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 334
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1169
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.525706010137581e-5
allele num: 22096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2050
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.114578689255461e-4
allele num: 8972
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.201e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.187e0

DP
type: SiteQuality
SIO_000300: 9.18884e5

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 6.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.47e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8047
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33056
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 857
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3181
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.52447742285766e-5
allele num: 22102
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2046
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2986
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.46e-1

QD
type: SiteQuality
SIO_000300: 1.294e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 9.1666e5

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
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variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6477
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 8.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2930
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21534
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.065856129685917e-4
allele num: 1974
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8914
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.85361e5

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.97e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.54e0

FS
type: SiteQuality
SIO_000300: 5.395e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

VQSLOD
type: SiteQuality
SIO_000300: -5.794e-1

QD
type: SiteQuality
SIO_000300: 1.021e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

GenotypeQuality
all individuals: 457
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6124
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3183
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
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variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2716
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.249718785151856e-4
allele num: 8890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2930
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.09e-2

DP
type: SiteQuality
SIO_000300: 8.74014e5

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

FS
type: SiteQuality
SIO_000300: 7.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.739e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.83e-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
all individuals: 3182
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.763719512195122e-5
allele num: 20992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2896
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.084e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

DP
type: SiteQuality
SIO_000300: 8.55697e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.881e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.28e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.16e-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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bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4076
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19748
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8716
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.11522633744856e-4
allele num: 2430
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.81e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

DP
type: SiteQuality
SIO_000300: 8.24743e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e0

MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.308e0

VQSLOD
type: SiteQuality
SIO_000300: -3.024e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1462
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.511300853842291e-4
allele num: 3982
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18962
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.467e0

MQRankSum
type: SiteQuality
SIO_000300: -3.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 3.28e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.733e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.131e1

DP
type: SiteQuality
SIO_000300: 8.12646e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.22e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.28e-2

GenotypeQuality
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bin: 2.5e0
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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variant carriers: 1

GenotypeQuality
all individuals: 369
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18152
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.602811035918792e-4
allele num: 3842
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 7.564296520423601e-4
allele num: 1322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.851e0

QD
type: SiteQuality
SIO_000300: 2.385e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.681e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 7.97676e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.25e-1

GenotypeQuality
all individuals: 160
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variant carriers: 0

GenotypeQuality
all individuals: 17923
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GenotypeQuality
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GenotypeQuality
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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: 3180
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GenotypeQuality
all individuals: 3650
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 2.632964718272775e-4
allele num: 3798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2016
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17936
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2612
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.884e-1

DP
type: SiteQuality
SIO_000300: 7.94186e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.932e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.315e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.335e1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.215066828675577e-4
allele num: 8230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

QD
type: SiteQuality
SIO_000300: 1.693e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 3.68e0

MQ
type: SiteQuality
SIO_000300: 5.799e1

DP
type: SiteQuality
SIO_000300: 1.556814e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.386e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.104484205875856e-4
allele num: 9054
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.56219e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 1.542e0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.76e-1

QD
type: SiteQuality
SIO_000300: 1.509e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e0

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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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52849107361213e-5
allele num: 65424
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

South Asian
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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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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.8e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

QD
type: SiteQuality
SIO_000300: 1.367e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 105
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527183872938302e-5
allele num: 65480
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9438
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.590999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.732e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515656734062869e-5
allele num: 65978
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

South Asian
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
allele num: 11384
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
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SIO_000300: -2.047e0

VQSLOD
type: SiteQuality
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DP
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SIO_000300: 1.639645e6

BaseQRankSum
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SIO_000300: 4.01e0

FS
type: SiteQuality
SIO_000300: 1.202e1

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-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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variant carriers: 4

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.050155791511632e-5
allele num: 66114
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.437e0

DP
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SIO_000300: 1.643647e6

VQSLOD
type: SiteQuality
SIO_000300: 5.91e-1

FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

QD
type: SiteQuality
SIO_000300: 1.166e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6564
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.76731544800982e-5
allele num: 11406
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.10798924993892e-5
allele num: 16372
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.645691e6

MQRankSum
type: SiteQuality
SIO_000300: -1.102e0

VQSLOD
type: SiteQuality
SIO_000300: -1.737e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 7.5e-1

BaseQRankSum
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SIO_000300: 2.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

QD
type: SiteQuality
SIO_000300: 1.027e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

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

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

East Asian
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allele count: 1
allele frequency: 1.176193836744295e-4
allele num: 8502
num of homozygotes: 0

African
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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: 0
allele frequency: 0.0e0
allele num: 66274
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.473e1

FS
type: SiteQuality
SIO_000300: 1.2233e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.647112e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e0

VQSLOD
type: SiteQuality
SIO_000300: -1.387e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.025430680885972e-4
allele num: 9752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.651509e6

MQ
type: SiteQuality
SIO_000300: 5.985e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.119e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e0

VQSLOD
type: SiteQuality
SIO_000300: 3.47e-1

QD
type: SiteQuality
SIO_000300: 1.265e1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66464
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 1
allele frequency: 1.171234481143125e-4
allele num: 8538
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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MQRankSum
type: SiteQuality
SIO_000300: 5.07e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000840235265874e-5
allele num: 66648
num of homozygotes: 0

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

South Asian
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allele count: 0
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InbreedingCoeff
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MQRankSum
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DP
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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MQ
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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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
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66658
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South Asian
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allele frequency: 6.062075654704171e-5
allele num: 16496
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Latino
type: Population
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Other
type: Population
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East Asian
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FS
type: SiteQuality
SIO_000300: 1.4838e1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.912e1

ClippingRankSum
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
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num of homozygotes: 0

Other
type: Population
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African
type: Population
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allele frequency: 1.02124183006536e-4
allele num: 9792
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

MQRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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FS
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SIO_000300: 6.878e0

QD
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SIO_000300: 1.148e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.662e0

GenotypeQuality
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bin: 7.5e0
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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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162790697674419e-4
allele num: 8600
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

QD
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SIO_000300: 1.083e1

MQRankSum
type: SiteQuality
SIO_000300: -5.81e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e0

FS
type: SiteQuality
SIO_000300: 7.92e-1

DP
type: SiteQuality
SIO_000300: 1.656569e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
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SIO_000300: 9.640000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 1.656301e6

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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bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.704735376044568e-5
allele num: 11488
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.07e-1

DP
type: SiteQuality
SIO_000300: 1.656301e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

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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bin: 5.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
SIO_000300: 9.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.58e-1

DP
type: SiteQuality
SIO_000300: 1.656315e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.105e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

Latino
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allele count: 1
allele frequency: 8.718395815170009e-5
allele num: 11470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

Other
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allele num: 898
num of homozygotes: 0

East Asian
type: Population
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: 6600
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.92e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
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allele frequency: 0.0e0
allele num: 898
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 (Finnish)
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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: 9794
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 (Non-Finnish)
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allele count: 2
allele frequency: 3.000390050706592e-5
allele num: 66658
num of homozygotes: 0

East Asian
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FS
type: SiteQuality
SIO_000300: 9.5e-1

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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BaseQRankSum
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.01e-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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bin: 9.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 898
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

African
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allele frequency: 1.02124183006536e-4
allele num: 9792
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South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

Latino
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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
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DP
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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FS
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MQ
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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African
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Other
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InbreedingCoeff
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DP
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MQRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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FS
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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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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66598
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Other
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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QD
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VQSLOD
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MQ
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ReadPosRankSum
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

African
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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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European (Non-Finnish)
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allele num: 66572
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Latino
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East Asian
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Other
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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ClippingRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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allele num: 66318
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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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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.975e1

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

African
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Other
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Latino
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European (Non-Finnish)
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allele frequency: 1.657110661849998e-5
allele num: 60346
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e-1

FS
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -1.881e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.739e0

InbreedingCoeff
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SIO_000300: -9.0e-4

DP
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SIO_000300: 1.367065e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.62e-1

QD
type: SiteQuality
SIO_000300: 6.22e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 15636
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9046
num of homozygotes: 0

East Asian
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allele count: 6
allele frequency: 7.980845969672786e-4
allele num: 7518
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
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QD
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SIO_000300: 1.633e1

BaseQRankSum
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SIO_000300: 2.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.02e-1

DP
type: SiteQuality
SIO_000300: 1.341331e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10112
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.670397220459025e-5
allele num: 59866
num of homozygotes: 0

South Asian
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QD
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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DP
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SIO_000300: 1.325678e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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ClippingRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 7.35e-1

FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.204e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8950
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele num: 15546
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7346
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.94e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.269834e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.696986152592995e-5
allele num: 58928
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7252
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 820
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.240729e6

MQ
type: SiteQuality
SIO_000300: 5.438e1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9942
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
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.40506673930809e-5
allele num: 58736
num of homozygotes: 0

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

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

Other
type: Population
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num of homozygotes: 0

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

South Asian
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East Asian
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQ
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MQRankSum
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VQSLOD
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DP
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ClippingRankSum
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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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variant carriers: 0

African
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 57568
num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 57086
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East Asian
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allele num: 6968
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South Asian
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Latino
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African
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Other
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ClippingRankSum
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MQRankSum
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MQ
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VQSLOD
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FS
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DP
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InbreedingCoeff
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QD
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BaseQRankSum
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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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bin: 1.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7746
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15320
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.152073732718894e-4
allele num: 8680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

QD
type: SiteQuality
SIO_000300: 1.199e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

FS
type: SiteQuality
SIO_000300: 3.163e0

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.22e-1

DP
type: SiteQuality
SIO_000300: 1.117908e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

GenotypeQuality
all individuals: 130
bin: 8.75e1
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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bin: 2.75e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1715
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.279763857002296e-4
allele num: 6098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.423777842059589e-5
allele num: 55312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.79e-1

DP
type: SiteQuality
SIO_000300: 1.073122e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.512e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.447e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.822821728034998e-5
allele num: 54860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6068
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-1

QD
type: SiteQuality
SIO_000300: 1.052e1

VQSLOD
type: SiteQuality
SIO_000300: 8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.061633e6

MQRankSum
type: SiteQuality
SIO_000300: -1.2e0

FS
type: SiteQuality
SIO_000300: 3.358e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-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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variant carriers: 0

GenotypeQuality
all individuals: 18073
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 2
allele frequency: 1.751927119831815e-4
allele num: 11416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15114
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65694
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.459e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 2.296229e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.58e0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4426
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.128529698149951e-5
allele num: 65728
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.759635599159075e-5
allele num: 11416
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.297019e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 1.648e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.360000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.91e-1

GenotypeQuality
all individuals: 1055
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1152
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variant carriers: 0

GenotypeQuality
all individuals: 2099
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65700
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15132
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.181474480151229e-4
allele num: 8464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9684
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.349e1

VQSLOD
type: SiteQuality
SIO_000300: -1.147e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.868e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 2.298365e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 3467
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519156564275514e-5
allele num: 65826
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15292
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.029999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.429e0

MQRankSum
type: SiteQuality
SIO_000300: 2.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.31183e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 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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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2662
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.177856301531213e-4
allele num: 8490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15350
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

FS
type: SiteQuality
SIO_000300: 1.881e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.849e0

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

DP
type: SiteQuality
SIO_000300: 2.314505e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.67e0

QD
type: SiteQuality
SIO_000300: 1.26e1

GenotypeQuality
all individuals: 386
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65956
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.030715316429602e-4
allele num: 9702
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 2.81e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.325248e6

MQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

FS
type: SiteQuality
SIO_000300: 9.882e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

QD
type: SiteQuality
SIO_000300: 1.779e1

ClippingRankSum
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SIO_000300: -1.033e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.389776357827476e-5
allele num: 15650
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66030
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.487e0

InbreedingCoeff
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DP
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SIO_000300: 2.329532e6

FS
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.502e0

MQ
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MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e0

GenotypeQuality
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bin: 9.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66076
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 15740
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

Latino
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allele frequency: 1.745505323791238e-4
allele num: 11458
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.055e0

VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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DP
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QD
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SIO_000300: 1.66e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.59e-2

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66118
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.729050279329609e-5
allele num: 11456
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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.785e1

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

BaseQRankSum
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SIO_000300: 4.85e0

VQSLOD
type: SiteQuality
SIO_000300: -5.3e-2

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 5.318e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-1

DP
type: SiteQuality
SIO_000300: 2.33592e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-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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bin: 8.75e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508568670045861e-5
allele num: 66288
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.452e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.688e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.344098e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.344e0

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
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: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.358073e6

MQRankSum
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FS
type: SiteQuality
SIO_000300: 1.352e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.48e-2

MQ
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 1.15e0

BaseQRankSum
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SIO_000300: 6.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.685079034219212e-5
allele num: 11514
num of homozygotes: 0

Other
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: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

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

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

African
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allele num: 9800
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MQ
type: SiteQuality
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QD
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DP
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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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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variant carriers: 0

East Asian
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allele count: 0
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allele num: 8612
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

South Asian
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allele frequency: 1.214624073849144e-4
allele num: 16466
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European (Finnish)
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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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Other
type: Population
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QD
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ReadPosRankSum
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MQ
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FS
type: SiteQuality
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

Other
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num of homozygotes: 0

East Asian
type: Population
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allele num: 8608
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African
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Latino
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allele frequency: 3.472825143254037e-4
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 7.505253677574302e-5
allele num: 66620
num of homozygotes: 0

South Asian
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European (Finnish)
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QD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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DP
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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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
all individuals: 4172
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4437
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2101
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.73e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

DP
type: SiteQuality
SIO_000300: 2.359075e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.156e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.593e0