19-40744018-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40744018
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 40744018
    reference: chr 19
allele count: 3
allele frequency: 6.29009938357026e-5
allele num: 47694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000578282
  gene symbol: AKT2
  hgvsc: ENST00000578282.1:n.102-20C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000476266
  gene symbol: AKT2
  hgvsc: ENST00000476266.1:n.1037-20C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000375892
  ensembl transcript: ENST00000392038
  gene symbol: AKT2
  hgvsc: ENST00000392038.2:c.709-20C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000580878
  gene symbol: AKT2
  hgvsc: ENST00000580878.1:n.366-20C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000480878
  gene symbol: AKT2
  hgvsc: ENST00000480878.2:n.138-20C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000462469
  ensembl transcript: ENST00000584288
  gene symbol: AKT2
  hgvsc: ENST00000584288.1:c.*323-20C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000375719
  ensembl transcript: ENST00000391844
  gene symbol: AKT2
  hgvsc: ENST00000391844.4:c.*323-20C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000483166
  gene symbol: AKT2
  hgvsc: ENST00000483166.1:n.597-20C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000472371
  ensembl transcript: ENST00000601166
  gene symbol: AKT2
  hgvsc: ENST00000601166.1:c.*63-20C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000471369
  ensembl transcript: ENST00000579047
  gene symbol: AKT2
  hgvsc: ENST00000579047.1:c.523-20C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000391845
  gene symbol: AKT2
  hgvsc: ENST00000391845.2:n.174-20C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000579345
  gene symbol: AKT2
  hgvsc: ENST00000579345.1:n.229-20C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000399532
  ensembl transcript: ENST00000424901
  gene symbol: AKT2
  hgvsc: ENST00000424901.1:c.709-20C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000462919
  ensembl transcript: ENST00000578310
  gene symbol: AKT2
  hgvsc: ENST00000578310.1:c.75-1726C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000309428
  ensembl transcript: ENST00000311278
  gene symbol: AKT2
  hgvsc: ENST00000311278.6:c.709-20C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000463262
  ensembl transcript: ENST00000578615
  gene symbol: AKT2
  hgvsc: ENST00000578615.1:c.277-20C>T
  variant of: http://identifiers.org/hgnc/392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21004
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

17-3833759-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3833759
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3833759
    reference: chr 17
allele count: 3
allele frequency: 2.583311805734952e-5
allele num: 116130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2611-31C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.908-31C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.163-31C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2611-31C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000570773
  gene symbol: ATP2A3
  hgvsc: ENST00000570773.1:n.407C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2611-31C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2611-31C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2611-31C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2611-31C>T
  variant of: http://identifiers.org/hgnc/813
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

19-40744019-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40744019
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 40744019
    reference: chr 19
allele count: 2
allele frequency: 4.244842516342644e-5
allele num: 47116
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000579345
  gene symbol: AKT2
  hgvsc: ENST00000579345.1:n.229-21C>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000472371
  ensembl transcript: ENST00000601166
  gene symbol: AKT2
  hgvsc: ENST00000601166.1:c.*63-21C>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000483166
  gene symbol: AKT2
  hgvsc: ENST00000483166.1:n.597-21C>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000580878
  gene symbol: AKT2
  hgvsc: ENST00000580878.1:n.366-21C>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000375892
  ensembl transcript: ENST00000392038
  gene symbol: AKT2
  hgvsc: ENST00000392038.2:c.709-21C>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000391845
  gene symbol: AKT2
  hgvsc: ENST00000391845.2:n.174-21C>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000309428
  ensembl transcript: ENST00000311278
  gene symbol: AKT2
  hgvsc: ENST00000311278.6:c.709-21C>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000471369
  ensembl transcript: ENST00000579047
  gene symbol: AKT2
  hgvsc: ENST00000579047.1:c.523-21C>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000462469
  ensembl transcript: ENST00000584288
  gene symbol: AKT2
  hgvsc: ENST00000584288.1:c.*323-21C>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000480878
  gene symbol: AKT2
  hgvsc: ENST00000480878.2:n.138-21C>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000476266
  gene symbol: AKT2
  hgvsc: ENST00000476266.1:n.1037-21C>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000375719
  ensembl transcript: ENST00000391844
  gene symbol: AKT2
  hgvsc: ENST00000391844.4:c.*323-21C>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000578282
  gene symbol: AKT2
  hgvsc: ENST00000578282.1:n.102-21C>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000463262
  ensembl transcript: ENST00000578615
  gene symbol: AKT2
  hgvsc: ENST00000578615.1:c.277-21C>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000462919
  ensembl transcript: ENST00000578310
  gene symbol: AKT2
  hgvsc: ENST00000578310.1:c.75-1727C>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000399532
  ensembl transcript: ENST00000424901
  gene symbol: AKT2
  hgvsc: ENST00000424901.1:c.709-21C>G
  variant of: http://identifiers.org/hgnc/392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

19-40744021-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40744021
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 40744021
    reference: chr 19
allele count: 1
allele frequency: 2.24164985429276e-5
allele num: 44610
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000375892
  ensembl transcript: ENST00000392038
  gene symbol: AKT2
  hgvsc: ENST00000392038.2:c.709-23C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000472371
  ensembl transcript: ENST00000601166
  gene symbol: AKT2
  hgvsc: ENST00000601166.1:c.*63-23C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000580878
  gene symbol: AKT2
  hgvsc: ENST00000580878.1:n.366-23C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000391845
  gene symbol: AKT2
  hgvsc: ENST00000391845.2:n.174-23C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000399532
  ensembl transcript: ENST00000424901
  gene symbol: AKT2
  hgvsc: ENST00000424901.1:c.709-23C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000578282
  gene symbol: AKT2
  hgvsc: ENST00000578282.1:n.102-23C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000463262
  ensembl transcript: ENST00000578615
  gene symbol: AKT2
  hgvsc: ENST00000578615.1:c.277-23C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000462919
  ensembl transcript: ENST00000578310
  gene symbol: AKT2
  hgvsc: ENST00000578310.1:c.75-1729C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000483166
  gene symbol: AKT2
  hgvsc: ENST00000483166.1:n.597-23C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000462469
  ensembl transcript: ENST00000584288
  gene symbol: AKT2
  hgvsc: ENST00000584288.1:c.*323-23C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000579345
  gene symbol: AKT2
  hgvsc: ENST00000579345.1:n.229-23C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000476266
  gene symbol: AKT2
  hgvsc: ENST00000476266.1:n.1037-23C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000309428
  ensembl transcript: ENST00000311278
  gene symbol: AKT2
  hgvsc: ENST00000311278.6:c.709-23C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000375719
  ensembl transcript: ENST00000391844
  gene symbol: AKT2
  hgvsc: ENST00000391844.4:c.*323-23C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000471369
  ensembl transcript: ENST00000579047
  gene symbol: AKT2
  hgvsc: ENST00000579047.1:c.523-23C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000480878
  gene symbol: AKT2
  hgvsc: ENST00000480878.2:n.138-23C>T
  variant of: http://identifiers.org/hgnc/392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16840
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-40744024-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40744024
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 40744024
    reference: chr 19
allele count: 4
allele frequency: 9.259687948516135e-5
allele num: 43198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000472371
  ensembl transcript: ENST00000601166
  gene symbol: AKT2
  hgvsc: ENST00000601166.1:c.*63-26C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000462469
  ensembl transcript: ENST00000584288
  gene symbol: AKT2
  hgvsc: ENST00000584288.1:c.*323-26C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000476266
  gene symbol: AKT2
  hgvsc: ENST00000476266.1:n.1037-26C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000471369
  ensembl transcript: ENST00000579047
  gene symbol: AKT2
  hgvsc: ENST00000579047.1:c.523-26C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000463262
  ensembl transcript: ENST00000578615
  gene symbol: AKT2
  hgvsc: ENST00000578615.1:c.277-26C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000391845
  gene symbol: AKT2
  hgvsc: ENST00000391845.2:n.174-26C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000580878
  gene symbol: AKT2
  hgvsc: ENST00000580878.1:n.366-26C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000480878
  gene symbol: AKT2
  hgvsc: ENST00000480878.2:n.138-26C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000483166
  gene symbol: AKT2
  hgvsc: ENST00000483166.1:n.597-26C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000399532
  ensembl transcript: ENST00000424901
  gene symbol: AKT2
  hgvsc: ENST00000424901.1:c.709-26C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000309428
  ensembl transcript: ENST00000311278
  gene symbol: AKT2
  hgvsc: ENST00000311278.6:c.709-26C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000375892
  ensembl transcript: ENST00000392038
  gene symbol: AKT2
  hgvsc: ENST00000392038.2:c.709-26C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000375719
  ensembl transcript: ENST00000391844
  gene symbol: AKT2
  hgvsc: ENST00000391844.4:c.*323-26C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000578282
  gene symbol: AKT2
  hgvsc: ENST00000578282.1:n.102-26C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000579345
  gene symbol: AKT2
  hgvsc: ENST00000579345.1:n.229-26C>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000462919
  ensembl transcript: ENST00000578310
  gene symbol: AKT2
  hgvsc: ENST00000578310.1:c.75-1732C>T
  variant of: http://identifiers.org/hgnc/392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19980
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

19-40744028-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40744028
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 40744028
    reference: chr 19
allele count: 1
allele frequency: 2.506391297809414e-5
allele num: 39898
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000375892
  ensembl transcript: ENST00000392038
  gene symbol: AKT2
  hgvsc: ENST00000392038.2:c.709-30A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000471369
  ensembl transcript: ENST00000579047
  gene symbol: AKT2
  hgvsc: ENST00000579047.1:c.523-30A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000578282
  gene symbol: AKT2
  hgvsc: ENST00000578282.1:n.102-30A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000462919
  ensembl transcript: ENST00000578310
  gene symbol: AKT2
  hgvsc: ENST00000578310.1:c.75-1736A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000391845
  gene symbol: AKT2
  hgvsc: ENST00000391845.2:n.174-30A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000476266
  gene symbol: AKT2
  hgvsc: ENST00000476266.1:n.1037-30A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000480878
  gene symbol: AKT2
  hgvsc: ENST00000480878.2:n.138-30A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000472371
  ensembl transcript: ENST00000601166
  gene symbol: AKT2
  hgvsc: ENST00000601166.1:c.*63-30A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000483166
  gene symbol: AKT2
  hgvsc: ENST00000483166.1:n.597-30A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000579345
  gene symbol: AKT2
  hgvsc: ENST00000579345.1:n.229-30A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000399532
  ensembl transcript: ENST00000424901
  gene symbol: AKT2
  hgvsc: ENST00000424901.1:c.709-30A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000463262
  ensembl transcript: ENST00000578615
  gene symbol: AKT2
  hgvsc: ENST00000578615.1:c.277-30A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000580878
  gene symbol: AKT2
  hgvsc: ENST00000580878.1:n.366-30A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000462469
  ensembl transcript: ENST00000584288
  gene symbol: AKT2
  hgvsc: ENST00000584288.1:c.*323-30A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000375719
  ensembl transcript: ENST00000391844
  gene symbol: AKT2
  hgvsc: ENST00000391844.4:c.*323-30A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000309428
  ensembl transcript: ENST00000311278
  gene symbol: AKT2
  hgvsc: ENST00000311278.6:c.709-30A>G
  variant of: http://identifiers.org/hgnc/392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19710
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/19-40744762-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40744762
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 40744762
    reference: chr 19
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000579345
  gene symbol: AKT2
  hgvsc: ENST00000579345.1:n.228+50G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000480878
  gene symbol: AKT2
  hgvsc: ENST00000480878.2:n.137+50G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000472371
  ensembl transcript: ENST00000601166
  gene symbol: AKT2
  hgvsc: ENST00000601166.1:c.*62+50G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000309428
  ensembl transcript: ENST00000311278
  gene symbol: AKT2
  hgvsc: ENST00000311278.6:c.708+50G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000391845
  gene symbol: AKT2
  hgvsc: ENST00000391845.2:n.173+50G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000471369
  ensembl transcript: ENST00000579047
  gene symbol: AKT2
  hgvsc: ENST00000579047.1:c.522+50G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000483166
  gene symbol: AKT2
  hgvsc: ENST00000483166.1:n.596+50G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000375892
  ensembl transcript: ENST00000392038
  gene symbol: AKT2
  hgvsc: ENST00000392038.2:c.708+50G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000462919
  ensembl transcript: ENST00000578310
  gene symbol: AKT2
  hgvsc: ENST00000578310.1:c.75-2470G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000580878
  gene symbol: AKT2
  hgvsc: ENST00000580878.1:n.365+50G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000462469
  ensembl transcript: ENST00000584288
  gene symbol: AKT2
  hgvsc: ENST00000584288.1:c.*322+50G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000399532
  ensembl transcript: ENST00000424901
  gene symbol: AKT2
  hgvsc: ENST00000424901.1:c.708+50G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000375719
  ensembl transcript: ENST00000391844
  gene symbol: AKT2
  hgvsc: ENST00000391844.4:c.*322+50G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000463262
  ensembl transcript: ENST00000578615
  gene symbol: AKT2
  hgvsc: ENST00000578615.1:c.276+50G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000476266
  gene symbol: AKT2
  hgvsc: ENST00000476266.1:n.1036+50G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000578282
  gene symbol: AKT2
  hgvsc: ENST00000578282.1:n.101+50G>T
  variant of: http://identifiers.org/hgnc/392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/19-40744763-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40744763
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 40744763
    reference: chr 19
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000472371
  ensembl transcript: ENST00000601166
  gene symbol: AKT2
  hgvsc: ENST00000601166.1:c.*62+49G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000580878
  gene symbol: AKT2
  hgvsc: ENST00000580878.1:n.365+49G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000480878
  gene symbol: AKT2
  hgvsc: ENST00000480878.2:n.137+49G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000462919
  ensembl transcript: ENST00000578310
  gene symbol: AKT2
  hgvsc: ENST00000578310.1:c.75-2471G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000309428
  ensembl transcript: ENST00000311278
  gene symbol: AKT2
  hgvsc: ENST00000311278.6:c.708+49G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000471369
  ensembl transcript: ENST00000579047
  gene symbol: AKT2
  hgvsc: ENST00000579047.1:c.522+49G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000462469
  ensembl transcript: ENST00000584288
  gene symbol: AKT2
  hgvsc: ENST00000584288.1:c.*322+49G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000375892
  ensembl transcript: ENST00000392038
  gene symbol: AKT2
  hgvsc: ENST00000392038.2:c.708+49G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000578282
  gene symbol: AKT2
  hgvsc: ENST00000578282.1:n.101+49G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000579345
  gene symbol: AKT2
  hgvsc: ENST00000579345.1:n.228+49G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000483166
  gene symbol: AKT2
  hgvsc: ENST00000483166.1:n.596+49G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000391845
  gene symbol: AKT2
  hgvsc: ENST00000391845.2:n.173+49G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000399532
  ensembl transcript: ENST00000424901
  gene symbol: AKT2
  hgvsc: ENST00000424901.1:c.708+49G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000375719
  ensembl transcript: ENST00000391844
  gene symbol: AKT2
  hgvsc: ENST00000391844.4:c.*322+49G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000463262
  ensembl transcript: ENST00000578615
  gene symbol: AKT2
  hgvsc: ENST00000578615.1:c.276+49G>T
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000476266
  gene symbol: AKT2
  hgvsc: ENST00000476266.1:n.1036+49G>T
  variant of: http://identifiers.org/hgnc/392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

19-40744765-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40744765
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 40744765
    reference: chr 19
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000462919
  ensembl transcript: ENST00000578310
  gene symbol: AKT2
  hgvsc: ENST00000578310.1:c.75-2473A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000476266
  gene symbol: AKT2
  hgvsc: ENST00000476266.1:n.1036+47A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000375719
  ensembl transcript: ENST00000391844
  gene symbol: AKT2
  hgvsc: ENST00000391844.4:c.*322+47A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000579345
  gene symbol: AKT2
  hgvsc: ENST00000579345.1:n.228+47A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000309428
  ensembl transcript: ENST00000311278
  gene symbol: AKT2
  hgvsc: ENST00000311278.6:c.708+47A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000375892
  ensembl transcript: ENST00000392038
  gene symbol: AKT2
  hgvsc: ENST00000392038.2:c.708+47A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000580878
  gene symbol: AKT2
  hgvsc: ENST00000580878.1:n.365+47A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000472371
  ensembl transcript: ENST00000601166
  gene symbol: AKT2
  hgvsc: ENST00000601166.1:c.*62+47A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000391845
  gene symbol: AKT2
  hgvsc: ENST00000391845.2:n.173+47A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000483166
  gene symbol: AKT2
  hgvsc: ENST00000483166.1:n.596+47A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000471369
  ensembl transcript: ENST00000579047
  gene symbol: AKT2
  hgvsc: ENST00000579047.1:c.522+47A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000462469
  ensembl transcript: ENST00000584288
  gene symbol: AKT2
  hgvsc: ENST00000584288.1:c.*322+47A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000480878
  gene symbol: AKT2
  hgvsc: ENST00000480878.2:n.137+47A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000578282
  gene symbol: AKT2
  hgvsc: ENST00000578282.1:n.101+47A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000463262
  ensembl transcript: ENST00000578615
  gene symbol: AKT2
  hgvsc: ENST00000578615.1:c.276+47A>G
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000399532
  ensembl transcript: ENST00000424901
  gene symbol: AKT2
  hgvsc: ENST00000424901.1:c.708+47A>G
  variant of: http://identifiers.org/hgnc/392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

19-40744768-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40744768
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 40744768
    reference: chr 19
allele count: 1
allele frequency: 8.279105194310599e-6
allele num: 120786
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000476266
  gene symbol: AKT2
  hgvsc: ENST00000476266.1:n.1036+44T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000391845
  gene symbol: AKT2
  hgvsc: ENST00000391845.2:n.173+44T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000399532
  ensembl transcript: ENST00000424901
  gene symbol: AKT2
  hgvsc: ENST00000424901.1:c.708+44T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000579345
  gene symbol: AKT2
  hgvsc: ENST00000579345.1:n.228+44T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000462919
  ensembl transcript: ENST00000578310
  gene symbol: AKT2
  hgvsc: ENST00000578310.1:c.75-2476T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000462469
  ensembl transcript: ENST00000584288
  gene symbol: AKT2
  hgvsc: ENST00000584288.1:c.*322+44T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000375892
  ensembl transcript: ENST00000392038
  gene symbol: AKT2
  hgvsc: ENST00000392038.2:c.708+44T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000375719
  ensembl transcript: ENST00000391844
  gene symbol: AKT2
  hgvsc: ENST00000391844.4:c.*322+44T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000472371
  ensembl transcript: ENST00000601166
  gene symbol: AKT2
  hgvsc: ENST00000601166.1:c.*62+44T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000483166
  gene symbol: AKT2
  hgvsc: ENST00000483166.1:n.596+44T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000471369
  ensembl transcript: ENST00000579047
  gene symbol: AKT2
  hgvsc: ENST00000579047.1:c.522+44T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000463262
  ensembl transcript: ENST00000578615
  gene symbol: AKT2
  hgvsc: ENST00000578615.1:c.276+44T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000309428
  ensembl transcript: ENST00000311278
  gene symbol: AKT2
  hgvsc: ENST00000311278.6:c.708+44T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000578282
  gene symbol: AKT2
  hgvsc: ENST00000578282.1:n.101+44T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000580878
  gene symbol: AKT2
  hgvsc: ENST00000580878.1:n.365+44T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000480878
  gene symbol: AKT2
  hgvsc: ENST00000480878.2:n.137+44T>C
  variant of: http://identifiers.org/hgnc/392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6986
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-40744770-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40744770
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 40744770
    reference: chr 19
allele count: 4
allele frequency: 3.311751751088738e-5
allele num: 120782
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000399532
  ensembl transcript: ENST00000424901
  gene symbol: AKT2
  hgvsc: ENST00000424901.1:c.708+42T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000483166
  gene symbol: AKT2
  hgvsc: ENST00000483166.1:n.596+42T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000480878
  gene symbol: AKT2
  hgvsc: ENST00000480878.2:n.137+42T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000462469
  ensembl transcript: ENST00000584288
  gene symbol: AKT2
  hgvsc: ENST00000584288.1:c.*322+42T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000375719
  ensembl transcript: ENST00000391844
  gene symbol: AKT2
  hgvsc: ENST00000391844.4:c.*322+42T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000391845
  gene symbol: AKT2
  hgvsc: ENST00000391845.2:n.173+42T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000580878
  gene symbol: AKT2
  hgvsc: ENST00000580878.1:n.365+42T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000472371
  ensembl transcript: ENST00000601166
  gene symbol: AKT2
  hgvsc: ENST00000601166.1:c.*62+42T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000462919
  ensembl transcript: ENST00000578310
  gene symbol: AKT2
  hgvsc: ENST00000578310.1:c.75-2478T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000471369
  ensembl transcript: ENST00000579047
  gene symbol: AKT2
  hgvsc: ENST00000579047.1:c.522+42T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000476266
  gene symbol: AKT2
  hgvsc: ENST00000476266.1:n.1036+42T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000463262
  ensembl transcript: ENST00000578615
  gene symbol: AKT2
  hgvsc: ENST00000578615.1:c.276+42T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000578282
  gene symbol: AKT2
  hgvsc: ENST00000578282.1:n.101+42T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000375892
  ensembl transcript: ENST00000392038
  gene symbol: AKT2
  hgvsc: ENST00000392038.2:c.708+42T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl transcript: ENST00000579345
  gene symbol: AKT2
  hgvsc: ENST00000579345.1:n.228+42T>C
  variant of: http://identifiers.org/hgnc/392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105221
  ensembl protein: ENSP00000309428
  ensembl transcript: ENST00000311278
  gene symbol: AKT2
  hgvsc: ENST00000311278.6:c.708+42T>C
  variant of: http://identifiers.org/hgnc/392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

17-3833765-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3833765
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3833765
    reference: chr 17
allele count: 1
allele frequency: 8.834858818956073e-6
allele num: 113188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000570773
  gene symbol: ATP2A3
  hgvsc: ENST00000570773.1:n.401A>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2611-37A>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.163-37A>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2611-37A>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2611-37A>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2611-37A>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2611-37A>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.908-37A>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2611-37A>G
  variant of: http://identifiers.org/hgnc/813
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9441
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/17-3833770-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3833770
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3833770
    reference: chr 17
allele count: 1
allele frequency: 8.728440751344179e-6
allele num: 114568
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000570773
  gene symbol: ATP2A3
  hgvsc: ENST00000570773.1:n.396G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2611-42G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.908-42G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2611-42G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2611-42G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2611-42G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2611-42G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2611-42G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.163-42G>T
  variant of: http://identifiers.org/hgnc/813
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19996
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3280
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4716
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

17-3833771-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3833771
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3833771
    reference: chr 17
allele count: 1
allele frequency: 8.723415391594117e-6
allele num: 114634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000570773
  gene symbol: ATP2A3
  hgvsc: ENST00000570773.1:n.395C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2611-43C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2611-43C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2611-43C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2611-43C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.163-43C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2611-43C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2611-43C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.908-43C>T
  variant of: http://identifiers.org/hgnc/813
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19155
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4805
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

17-3833773-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3833773
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3833773
    reference: chr 17
allele count: 1
allele frequency: 8.737134569346637e-6
allele num: 114454
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2611-45C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2611-45C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2611-45C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000570773
  gene symbol: ATP2A3
  hgvsc: ENST00000570773.1:n.393C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2611-45C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2611-45C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.163-45C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.908-45C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2611-45C>T
  variant of: http://identifiers.org/hgnc/813
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19711
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6475
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

17-3833779-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3833779
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3833779
    reference: chr 17
allele count: 1
allele frequency: 8.77470078270331e-6
allele num: 113964
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2611-51C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2611-51C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.908-51C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000570773
  gene symbol: ATP2A3
  hgvsc: ENST00000570773.1:n.387C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2611-51C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2611-51C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2611-51C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2611-51C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.163-51C>G
  variant of: http://identifiers.org/hgnc/813
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6737
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14514
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

17-3838435-CAACAACTCGAGCTGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838435
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838420
    reference: chr 17
allele count: 1
allele frequency: 8.36946150884652e-6
allele num: 119482
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  variant of: http://identifiers.org/hgnc/813
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2975
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: CAACAACTCGAGCTGT
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

17-3838443-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838443
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838443
    reference: chr 17
allele count: 1
allele frequency: 8.363301831563101e-6
allele num: 119570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2610+43G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2610+43G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.215G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2610+43G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2610+43G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2610+43G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.162+43G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2610+43G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.907+43G>A
  variant of: http://identifiers.org/hgnc/813
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6966
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4013
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-3838444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838444
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838444
    reference: chr 17
allele count: 1
allele frequency: 8.364001338240215e-6
allele num: 119560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2610+42C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.214C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.907+42C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2610+42C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2610+42C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2610+42C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2610+42C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2610+42C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.162+42C>T
  variant of: http://identifiers.org/hgnc/813
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10794
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6968
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

17-3838446-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838446
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838446
    reference: chr 17
allele count: 1
allele frequency: 8.358688020328329e-6
allele num: 119636
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.212C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2610+40C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.162+40C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2610+40C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2610+40C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2610+40C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2610+40C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2610+40C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.907+40C>G
  variant of: http://identifiers.org/hgnc/813
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10838
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6965
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26677
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP

17-3838463-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838463
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838463
    reference: chr 17
allele count: 1
allele frequency: 8.344180768332166e-6
allele num: 119844
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2610+23G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.907+23G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2610+23G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2610+23G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.195G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.162+23G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2610+23G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2610+23G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2610+23G>A
  variant of: http://identifiers.org/hgnc/813
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14961
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3985
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-3838499-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838499
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838499
    reference: chr 17
allele count: 1
allele frequency: 8.30675172780436e-6
allele num: 120384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2597A>G
  hgvsp: ENSP00000380236.3:p.Asn866Ser
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.149A>G
  hgvsp: ENSP00000380232.1:p.Asn50Ser
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2597A>G
  hgvsp: ENSP00000380234.3:p.Asn866Ser
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.159A>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2597A>G
  hgvsp: ENSP00000380229.3:p.Asn866Ser
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2597A>G
  hgvsp: ENSP00000353072.3:p.Asn866Ser
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2597A>G
  hgvsp: ENSP00000301387.6:p.Asn866Ser
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2597A>G
  hgvsp: ENSP00000312577.7:p.Asn866Ser
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.894A>G
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20430
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3979
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn866Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

17-3838501-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838501
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838501
    reference: chr 17
allele count: 1
allele frequency: 8.306199747491528e-6
allele num: 120392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2595C>T
  hgvsp: ENST00000397041.3:c.2595C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2595C>T
  hgvsp: ENST00000352011.3:c.2595C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.147C>T
  hgvsp: ENST00000397039.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2595C>T
  hgvsp: ENST00000359983.3:c.2595C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2595C>T
  hgvsp: ENST00000397035.3:c.2595C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2595C>T
  hgvsp: ENST00000309890.7:c.2595C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2595C>T
  hgvsp: ENST00000397043.3:c.2595C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.892C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.157C>T
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6979
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile865Ile
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

17-3838503-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838503
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838503
    reference: chr 17
allele count: 1
allele frequency: 8.306061763875276e-6
allele num: 120394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.145A>C
  hgvsp: ENSP00000380232.1:p.Ile49Leu
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.155A>C
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2593A>C
  hgvsp: ENSP00000380234.3:p.Ile865Leu
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2593A>C
  hgvsp: ENSP00000353072.3:p.Ile865Leu
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2593A>C
  hgvsp: ENSP00000301387.6:p.Ile865Leu
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2593A>C
  hgvsp: ENSP00000380229.3:p.Ile865Leu
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.890A>C
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2593A>C
  hgvsp: ENSP00000312577.7:p.Ile865Leu
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2593A>C
  hgvsp: ENSP00000380236.3:p.Ile865Leu
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile865Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

17-3838515-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838515
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838515
    reference: chr 17
allele count: 1
allele frequency: 8.3099270388406e-6
allele num: 120338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.143G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.133G>A
  hgvsp: ENSP00000380232.1:p.Glu45Lys
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2581G>A
  hgvsp: ENSP00000353072.3:p.Glu861Lys
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.878G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2581G>A
  hgvsp: ENSP00000380234.3:p.Glu861Lys
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2581G>A
  hgvsp: ENSP00000380236.3:p.Glu861Lys
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2581G>A
  hgvsp: ENSP00000312577.7:p.Glu861Lys
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2581G>A
  hgvsp: ENSP00000301387.6:p.Glu861Lys
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2581G>A
  hgvsp: ENSP00000380229.3:p.Glu861Lys
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu861Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-3838516-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838516
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838516
    reference: chr 17
allele count: 3
allele frequency: 2.493185293531015e-5
allele num: 120328
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2580C>T
  hgvsp: ENST00000359983.3:c.2580C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2580C>T
  hgvsp: ENST00000397035.3:c.2580C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2580C>T
  hgvsp: ENST00000397041.3:c.2580C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2580C>T
  hgvsp: ENST00000309890.7:c.2580C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.877C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2580C>T
  hgvsp: ENST00000397043.3:c.2580C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.132C>T
  hgvsp: ENST00000397039.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.142C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2580C>T
  hgvsp: ENST00000352011.3:c.2580C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20381
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6982
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala860Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

17-3838518-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838518
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838518
    reference: chr 17
allele count: 1
allele frequency: 8.311170212765958e-6
allele num: 120320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.130G>A
  hgvsp: ENSP00000380232.1:p.Ala44Thr
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2578G>A
  hgvsp: ENSP00000380229.3:p.Ala860Thr
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2578G>A
  hgvsp: ENSP00000380236.3:p.Ala860Thr
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.875G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.140G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2578G>A
  hgvsp: ENSP00000301387.6:p.Ala860Thr
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2578G>A
  hgvsp: ENSP00000353072.3:p.Ala860Thr
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2578G>A
  hgvsp: ENSP00000312577.7:p.Ala860Thr
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2578G>A
  hgvsp: ENSP00000380234.3:p.Ala860Thr
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20350
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala860Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ

17-3838519-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838519
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838519
    reference: chr 17
allele count: 3
allele frequency: 2.493558307705095e-5
allele num: 120310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2577C>T
  hgvsp: ENST00000309890.7:c.2577C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2577C>T
  hgvsp: ENST00000397043.3:c.2577C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2577C>T
  hgvsp: ENST00000352011.3:c.2577C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2577C>T
  hgvsp: ENST00000397041.3:c.2577C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.129C>T
  hgvsp: ENST00000397039.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2577C>T
  hgvsp: ENST00000359983.3:c.2577C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.139C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2577C>T
  hgvsp: ENST00000397035.3:c.2577C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.874C>T
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8412
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp859Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/17-3838527-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838527
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838527
    reference: chr 17
allele count: 1
allele frequency: 8.318637074501714e-6
allele num: 120212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.866G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2569G>T
  hgvsp: ENSP00000312577.7:p.Val857Leu
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2569G>T
  hgvsp: ENSP00000380234.3:p.Val857Leu
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2569G>T
  hgvsp: ENSP00000380236.3:p.Val857Leu
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2569G>T
  hgvsp: ENSP00000353072.3:p.Val857Leu
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.131G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.121G>T
  hgvsp: ENSP00000380232.1:p.Val41Leu
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2569G>T
  hgvsp: ENSP00000380229.3:p.Val857Leu
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2569G>T
  hgvsp: ENSP00000301387.6:p.Val857Leu
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30069
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val857Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-3838542-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838542
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838542
    reference: chr 17
allele count: 3
allele frequency: 2.519484009674819e-5
allele num: 119072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2554G>A
  hgvsp: ENSP00000380229.3:p.Ala852Thr
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2554G>A
  hgvsp: ENSP00000380236.3:p.Ala852Thr
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2554G>A
  hgvsp: ENSP00000353072.3:p.Ala852Thr
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.106G>A
  hgvsp: ENSP00000380232.1:p.Ala36Thr
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.116G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2554G>A
  hgvsp: ENSP00000312577.7:p.Ala852Thr
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2554G>A
  hgvsp: ENSP00000380234.3:p.Ala852Thr
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.851G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2554G>A
  hgvsp: ENSP00000301387.6:p.Ala852Thr
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3023
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala852Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS

17-3838543-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838543
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838543
    reference: chr 17
allele count: 4
allele frequency: 3.356549467147772e-5
allele num: 119170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2553C>T
  hgvsp: ENST00000309890.7:c.2553C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.115C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2553C>T
  hgvsp: ENST00000397035.3:c.2553C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2553C>T
  hgvsp: ENST00000397041.3:c.2553C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.105C>T
  hgvsp: ENST00000397039.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2553C>T
  hgvsp: ENST00000359983.3:c.2553C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2553C>T
  hgvsp: ENST00000352011.3:c.2553C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.850C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2553C>T
  hgvsp: ENST00000397043.3:c.2553C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala851Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

17-3838544-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838544
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838544
    reference: chr 17
allele count: 23
allele frequency: 2.042665056217695e-4
allele num: 112598
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.104C>G
  hgvsp: ENSP00000380232.1:p.Ala35Gly
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2552C>G
  hgvsp: ENSP00000353072.3:p.Ala851Gly
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2552C>G
  hgvsp: ENSP00000380234.3:p.Ala851Gly
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2552C>G
  hgvsp: ENSP00000380236.3:p.Ala851Gly
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2552C>G
  hgvsp: ENSP00000312577.7:p.Ala851Gly
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.849C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2552C>G
  hgvsp: ENSP00000301387.6:p.Ala851Gly
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2552C>G
  hgvsp: ENSP00000380229.3:p.Ala851Gly
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.114C>G
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10717
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19647
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14517
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7800
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 1
hgvs: p.Ala851Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-3838552-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838552
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838552
    reference: chr 17
allele count: 2
allele frequency: 1.668808303990121e-5
allele num: 119846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2544A>G
  hgvsp: ENST00000352011.3:c.2544A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.96A>G
  hgvsp: ENST00000397039.1:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.106A>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2544A>G
  hgvsp: ENST00000309890.7:c.2544A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.841A>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2544A>G
  hgvsp: ENST00000397035.3:c.2544A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2544A>G
  hgvsp: ENST00000397043.3:c.2544A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2544A>G
  hgvsp: ENST00000397041.3:c.2544A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2544A>G
  hgvsp: ENST00000359983.3:c.2544A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr848Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

17-3838554-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838554
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838554
    reference: chr 17
allele count: 2
allele frequency: 1.668836153666433e-5
allele num: 119844
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.839A>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2542A>G
  hgvsp: ENSP00000353072.3:p.Thr848Ala
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.94A>G
  hgvsp: ENSP00000380232.1:p.Thr32Ala
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2542A>G
  hgvsp: ENSP00000380229.3:p.Thr848Ala
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.104A>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2542A>G
  hgvsp: ENSP00000312577.7:p.Thr848Ala
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2542A>G
  hgvsp: ENSP00000380236.3:p.Thr848Ala
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2542A>G
  hgvsp: ENSP00000301387.6:p.Thr848Ala
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2542A>G
  hgvsp: ENSP00000380234.3:p.Thr848Ala
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr848Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum

17-3838567-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838567
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838567
    reference: chr 17
allele count: 3
allele frequency: 2.507648327398566e-5
allele num: 119634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2529C>T
  hgvsp: ENST00000397041.3:c.2529C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.826C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.81C>T
  hgvsp: ENST00000397039.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2529C>T
  hgvsp: ENST00000309890.7:c.2529C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2529C>T
  hgvsp: ENST00000359983.3:c.2529C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2529C>T
  hgvsp: ENST00000397043.3:c.2529C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2529C>T
  hgvsp: ENST00000397035.3:c.2529C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2529C>T
  hgvsp: ENST00000352011.3:c.2529C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.91C>T
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr843Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/17-3838571-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838571
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838571
    reference: chr 17
allele count: 5
allele frequency: 4.182000669120107e-5
allele num: 119560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2525T>G
  hgvsp: ENSP00000380234.3:p.Val842Gly
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.822T>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.77T>G
  hgvsp: ENSP00000380232.1:p.Val26Gly
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2525T>G
  hgvsp: ENSP00000353072.3:p.Val842Gly
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.87T>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2525T>G
  hgvsp: ENSP00000380229.3:p.Val842Gly
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2525T>G
  hgvsp: ENSP00000312577.7:p.Val842Gly
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2525T>G
  hgvsp: ENSP00000380236.3:p.Val842Gly
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2525T>G
  hgvsp: ENSP00000301387.6:p.Val842Gly
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11055
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val842Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

17-3838571-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838571
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838571
    reference: chr 17
allele count: 1
allele frequency: 8.364001338240215e-6
allele num: 119560
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.77T>C
  hgvsp: ENSP00000380232.1:p.Val26Ala
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.822T>C
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2525T>C
  hgvsp: ENSP00000301387.6:p.Val842Ala
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2525T>C
  hgvsp: ENSP00000312577.7:p.Val842Ala
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2525T>C
  hgvsp: ENSP00000380234.3:p.Val842Ala
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2525T>C
  hgvsp: ENSP00000380229.3:p.Val842Ala
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2525T>C
  hgvsp: ENSP00000380236.3:p.Val842Ala
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2525T>C
  hgvsp: ENSP00000353072.3:p.Val842Ala
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.87T>C
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val842Ala
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

17-3838575-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838575
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838575
    reference: chr 17
allele count: 2
allele frequency: 1.673892301769304e-5
allele num: 119482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.77-4G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.822-4G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2525-4G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2525-4G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.87-4G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2525-4G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2525-4G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2525-4G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2525-4G>A
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3042
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
hgvs: c.2525-4G>A
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

17-3838577-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838577
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838577
    reference: chr 17
allele count: 121
allele frequency: 1.013332440037518e-3
allele num: 119408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2525-6C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2525-6C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2525-6C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.77-6C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2525-6C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2525-6C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.822-6C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2525-6C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.87-6C>G
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 14159
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11024
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20317
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
hgvs: c.2525-6C>G
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

17-3838589-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838589
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838589
    reference: chr 17
allele count: 20
allele frequency: 1.679797080512674e-4
allele num: 119062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2525-18C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2525-18C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.822-18C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.77-18C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.87-18C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2525-18C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2525-18C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2525-18C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2525-18C>T
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10928
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-3838591-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838591
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838591
    reference: chr 17
allele count: 2
allele frequency: 1.681011296395912e-5
allele num: 118976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2525-20G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.822-20G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2525-20G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2525-20G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2525-20G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.77-20G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.87-20G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2525-20G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2525-20G>T
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2820
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3888
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

17-3838592-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838592
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838592
    reference: chr 17
allele count: 2
allele frequency: 1.681746325384279e-5
allele num: 118924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.77-21G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2525-21G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2525-21G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2525-21G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2525-21G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2525-21G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.87-21G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2525-21G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.822-21G>A
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2970
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

17-3838593-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838593
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838593
    reference: chr 17
allele count: 1
allele frequency: 8.411560849231184e-6
allele num: 118884
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2525-22C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2525-22C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2525-22C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.87-22C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.822-22C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2525-22C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2525-22C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.77-22C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2525-22C>T
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7947
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ

17-3838606-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838606
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838606
    reference: chr 17
allele count: 1
allele frequency: 8.442380751371886e-6
allele num: 118450
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2525-35C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2525-35C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2525-35C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.77-35C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2525-35C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2525-35C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.87-35C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2525-35C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.822-35C>T
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7085
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/17-3838608-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838608
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838608
    reference: chr 17
allele count: 1
allele frequency: 8.459378066524549e-6
allele num: 118212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.822-37G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.87-37G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.77-37G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2525-37G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2525-37G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2525-37G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2525-37G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2525-37G>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2525-37G>T
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7139
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

17-3838609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838609
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838609
    reference: chr 17
allele count: 11
allele frequency: 9.307835505161618e-5
allele num: 118180
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2525-38C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.77-38C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2525-38C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2525-38C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2525-38C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2525-38C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2525-38C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.822-38C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.87-38C>T
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10105
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16822
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

17-3838612-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838612
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838612
    reference: chr 17
allele count: 1
allele frequency: 8.472565831836514e-6
allele num: 118028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.87-41C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.822-41C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2525-41C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2525-41C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2525-41C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.77-41C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2525-41C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2525-41C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2525-41C>T
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6790
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3708
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-3838616-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838616
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838616
    reference: chr 17
allele count: 1
allele frequency: 8.493290300662476e-6
allele num: 117740
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2525-45A>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2525-45A>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2525-45A>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2525-45A>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.77-45A>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.822-45A>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2525-45A>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.87-45A>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2525-45A>G
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13398
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3766
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3749
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

17-3838622-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838622
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838622
    reference: chr 17
allele count: 4
allele frequency: 3.423426507591448e-5
allele num: 116842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.822-51G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2525-51G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2525-51G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2525-51G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.87-51G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2525-51G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.77-51G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2525-51G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2525-51G>A
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12657
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13680
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8076
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5431
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

17-3838623-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838623
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838623
    reference: chr 17
allele count: 72
allele frequency: 6.155108740254411e-4
allele num: 116976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2525-52C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2525-52C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.77-52C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.822-52C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2525-52C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2525-52C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2525-52C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.87-52C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2525-52C>T
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8205
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13594
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 8066
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12750
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2716
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4919
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

17-3838623-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3838623
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3838623
    reference: chr 17
allele count: 1
allele frequency: 8.548762139242238e-6
allele num: 116976
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.87-52C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2525-52C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2525-52C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.77-52C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2525-52C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2525-52C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.822-52C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2525-52C>G
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2525-52C>G
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8066
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7140
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2716
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

17-3839515-TCTTAGGAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3839515
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3839506
    reference: chr 17
allele count: 1
allele frequency: 8.39278220730172e-6
allele num: 119150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11027
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3615
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: TCTTAGGAAG
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-3839524-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3839524
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3839524
    reference: chr 17
allele count: 1
allele frequency: 8.38799510141086e-6
allele num: 119218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2524+37C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.821+37C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2524+37C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.76+37C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2524+37C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2524+37C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2524+37C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2524+37C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.86+37C>T
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3579
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

17-3839530-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3839530
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3839530
    reference: chr 17
allele count: 1
allele frequency: 8.38335401227323e-6
allele num: 119284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.76+31C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2524+31C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2524+31C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2524+31C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.821+31C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2524+31C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2524+31C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2524+31C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.86+31C>T
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7702
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-3839531-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3839531
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3839531
    reference: chr 17
allele count: 1
allele frequency: 8.382651264942076e-6
allele num: 119294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2524+30T>C
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.76+30T>C
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2524+30T>C
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2524+30T>C
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2524+30T>C
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2524+30T>C
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.86+30T>C
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2524+30T>C
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.821+30T>C
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-3839538-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3839538
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3839538
    reference: chr 17
allele count: 7
allele frequency: 5.865004356860379e-5
allele num: 119352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2524+23G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2524+23G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.86+23G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.76+23G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.821+23G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2524+23G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2524+23G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2524+23G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2524+23G>A
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11875
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-3839539-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3839539
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3839539
    reference: chr 17
allele count: 6
allele frequency: 5.021760964178105e-5
allele num: 119480
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2524+22C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2524+22C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.821+22C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2524+22C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.76+22C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2524+22C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2524+22C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2524+22C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.86+22C>T
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11875
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3587
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24018
  bin: 9.75e1
  variant carriers: 6
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum

17-3839542-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3839542
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3839542
    reference: chr 17
allele count: 1
allele frequency: 8.362462577979963e-6
allele num: 119582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.821+19C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2524+19C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.76+19C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2524+19C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2524+19C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2524+19C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2524+19C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.86+19C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2524+19C>T
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7714
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15261
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

17-3839551-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3839551
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3839551
    reference: chr 17
allele count: 3
allele frequency: 2.50505185457339e-5
allele num: 119758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.86+10G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2524+10G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.76+10G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2524+10G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.821+10G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2524+10G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2524+10G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2524+10G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2524+10G>A
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6402
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3590
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum

17-3839556-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3839556
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3839556
    reference: chr 17
allele count: 1
allele frequency: 8.342649291709075e-6
allele num: 119866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.76+5G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2524+5G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2524+5G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2524+5G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.86+5G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2524+5G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2524+5G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2524+5G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.821+5G>A
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2960
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
hgvs: c.2524+5G>A
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

17-3839565-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3839565
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3839565
    reference: chr 17
allele count: 6
allele frequency: 4.997584500824601e-5
allele num: 120058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2520C>T
  hgvsp: ENST00000397041.3:c.2520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2520C>T
  hgvsp: ENST00000359983.3:c.2520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2520C>T
  hgvsp: ENST00000309890.7:c.2520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2520C>T
  hgvsp: ENST00000397043.3:c.2520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.817C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.72C>T
  hgvsp: ENST00000397039.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2520C>T
  hgvsp: ENST00000397035.3:c.2520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.82C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2520C>T
  hgvsp: ENST00000352011.3:c.2520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile840Ile
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

17-3839568-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3839568
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3839568
    reference: chr 17
allele count: 2
allele frequency: 1.66433659543306e-5
allele num: 120168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2517T>C
  hgvsp: ENST00000397043.3:c.2517T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2517T>C
  hgvsp: ENST00000397035.3:c.2517T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.79T>C
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2517T>C
  hgvsp: ENST00000397041.3:c.2517T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.69T>C
  hgvsp: ENST00000397039.1:c.69T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2517T>C
  hgvsp: ENST00000309890.7:c.2517T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2517T>C
  hgvsp: ENST00000359983.3:c.2517T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2517T>C
  hgvsp: ENST00000352011.3:c.2517T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.814T>C
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala839Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD

17-3839579-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3839579
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3839579
    reference: chr 17
allele count: 1
allele frequency: 8.307027745472669e-6
allele num: 120380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2506C>T
  hgvsp: ENSP00000312577.7:p.Arg836Ter
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.68C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2506C>T
  hgvsp: ENSP00000301387.6:p.Arg836Ter
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.803C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2506C>T
  hgvsp: ENSP00000380236.3:p.Arg836Ter
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.58C>T
  hgvsp: ENSP00000380232.1:p.Arg20Ter
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2506C>T
  hgvsp: ENSP00000380234.3:p.Arg836Ter
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2506C>T
  hgvsp: ENSP00000353072.3:p.Arg836Ter
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2506C>T
  hgvsp: ENSP00000380229.3:p.Arg836Ter
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg836Ter
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

17-3839603-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3839603
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3839603
    reference: chr 17
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.34C>T
  hgvsp: ENSP00000380232.1:p.Leu12Phe
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2482C>T
  hgvsp: ENSP00000312577.7:p.Leu828Phe
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2482C>T
  hgvsp: ENSP00000353072.3:p.Leu828Phe
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2482C>T
  hgvsp: ENSP00000380229.3:p.Leu828Phe
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.44C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.779C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2482C>T
  hgvsp: ENSP00000380234.3:p.Leu828Phe
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2482C>T
  hgvsp: ENSP00000380236.3:p.Leu828Phe
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2482C>T
  hgvsp: ENSP00000301387.6:p.Leu828Phe
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2964
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24033
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu828Phe
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

17-3839611-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3839611
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3839611
    reference: chr 17
allele count: 4
allele frequency: 3.31208081477188e-5
allele num: 120770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.771G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2474G>A
  hgvsp: ENSP00000312577.7:p.Arg825Gln
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.26G>A
  hgvsp: ENSP00000380232.1:p.Arg9Gln
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2474G>A
  hgvsp: ENSP00000380229.3:p.Arg825Gln
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2474G>A
  hgvsp: ENSP00000353072.3:p.Arg825Gln
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2474G>A
  hgvsp: ENSP00000380234.3:p.Arg825Gln
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2474G>A
  hgvsp: ENSP00000380236.3:p.Arg825Gln
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.36G>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2474G>A
  hgvsp: ENSP00000301387.6:p.Arg825Gln
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11897
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg825Gln
num of homozygotes: 1
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

17-3839621-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3839621
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3839621
    reference: chr 17
allele count: 1
allele frequency: 8.266649031148734e-6
allele num: 120968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.16C>T
  hgvsp: ENSP00000380232.1:p.Arg6Trp
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2464C>T
  hgvsp: ENSP00000353072.3:p.Arg822Trp
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2464C>T
  hgvsp: ENSP00000380236.3:p.Arg822Trp
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2464C>T
  hgvsp: ENSP00000312577.7:p.Arg822Trp
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2464C>T
  hgvsp: ENSP00000380229.3:p.Arg822Trp
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.26C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.761C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2464C>T
  hgvsp: ENSP00000380234.3:p.Arg822Trp
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2464C>T
  hgvsp: ENSP00000301387.6:p.Arg822Trp
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg822Trp
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-3839631-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3839631
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3839631
    reference: chr 17
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2454G>C
  hgvsp: ENSP00000312577.7:p.Glu818Asp
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2454G>C
  hgvsp: ENSP00000380229.3:p.Glu818Asp
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.6G>C
  hgvsp: ENSP00000380232.1:p.Glu2Asp
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2454G>C
  hgvsp: ENSP00000380236.3:p.Glu818Asp
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2454G>C
  hgvsp: ENSP00000301387.6:p.Glu818Asp
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2454G>C
  hgvsp: ENSP00000353072.3:p.Glu818Asp
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.16G>C
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.751G>C
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2454G>C
  hgvsp: ENSP00000380234.3:p.Glu818Asp
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7746
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu818Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

17-3839637-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3839637
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3839637
    reference: chr 17
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.745C>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.-1C>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2448C>A
  hgvsp: ENST00000397035.3:c.2448C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2448C>A
  hgvsp: ENST00000309890.7:c.2448C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2448C>A
  hgvsp: ENST00000397041.3:c.2448C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2448C>A
  hgvsp: ENST00000352011.3:c.2448C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2448C>A
  hgvsp: ENST00000397043.3:c.2448C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.10C>A
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2448C>A
  hgvsp: ENST00000359983.3:c.2448C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile816Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-3839640-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3839640
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3839640
    reference: chr 17
allele count: 4
allele frequency: 3.300983693140556e-5
allele num: 121176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000312577
  ensembl transcript: ENST00000309890
  gene symbol: ATP2A3
  hgvsc: ENST00000309890.7:c.2445C>T
  hgvsp: ENST00000309890.7:c.2445C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380234
  ensembl transcript: ENST00000397041
  gene symbol: ATP2A3
  hgvsc: ENST00000397041.3:c.2445C>T
  hgvsp: ENST00000397041.3:c.2445C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000301387
  ensembl transcript: ENST00000352011
  gene symbol: ATP2A3
  hgvsc: ENST00000352011.3:c.2445C>T
  hgvsp: ENST00000352011.3:c.2445C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000353072
  ensembl transcript: ENST00000359983
  gene symbol: ATP2A3
  hgvsc: ENST00000359983.3:c.2445C>T
  hgvsp: ENST00000359983.3:c.2445C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000572176
  gene symbol: ATP2A3
  hgvsc: ENST00000572176.1:n.7C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380236
  ensembl transcript: ENST00000397043
  gene symbol: ATP2A3
  hgvsc: ENST00000397043.3:c.2445C>T
  hgvsp: ENST00000397043.3:c.2445C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380229
  ensembl transcript: ENST00000397035
  gene symbol: ATP2A3
  hgvsc: ENST00000397035.3:c.2445C>T
  hgvsp: ENST00000397035.3:c.2445C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000074370
  ensembl protein: ENSP00000380232
  ensembl transcript: ENST00000397039
  gene symbol: ATP2A3
  hgvsc: ENST00000397039.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/813
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000074370
  ensembl transcript: ENST00000576957
  gene symbol: ATP2A3
  hgvsc: ENST00000576957.1:n.742C>T
  variant of: http://identifiers.org/hgnc/813
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp815Asp
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 44
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12606
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 896
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14816
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 612
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 375
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1188
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26007
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3022
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15327
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2046
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2060
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3010
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 814
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3758
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.026753141467369e-4
allele num: 9868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1226
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.956635277360133e-5
allele num: 25274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-2

DP
type: SiteQuality
SIO_000300: 7.60138e5

VQSLOD
type: SiteQuality
SIO_000300: 2.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.153e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.93e-1

GenotypeQuality
all individuals: 1238
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1404
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6511
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 26459
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4458
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4529
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2279
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3598
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64032
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5812
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.550295857988166e-4
allele num: 8450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.654475e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.303e0

QD
type: SiteQuality
SIO_000300: 1.065e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.43e0

GenotypeDepth
all individuals: 12461
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1114
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 33
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15202
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 20851
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1215
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2029
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25539
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3009
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 387
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15747
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1180
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2951
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 811
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2172
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2100
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 8.029548739360848e-5
allele num: 24908
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

FS
type: SiteQuality
SIO_000300: 2.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.96e-2

QD
type: SiteQuality
SIO_000300: 1.245e1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.5512e5

GenotypeDepth
all individuals: 113
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 271
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20181
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1025
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 896
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1737
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1856
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 612
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2197
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17304
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1443
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2796
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1936
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2537
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22605
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3009
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 612
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1044
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.280089025851737e-5
allele num: 23364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4888
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.402e1

DP
type: SiteQuality
SIO_000300: 7.34258e5

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

FS
type: SiteQuality
SIO_000300: 2.874e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.437e0

VQSLOD
type: SiteQuality
SIO_000300: -8.67e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.25e-2

GenotypeDepth
all individuals: 11118
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1714
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17722
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 911
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1171
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 145
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 374
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3115
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1902
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2365
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 678
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18205
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2178
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21467
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3012
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.336421952957947e-4
allele num: 22448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.03950103950104e-3
allele num: 962
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.179e0

DP
type: SiteQuality
SIO_000300: 7.22255e5

FS
type: SiteQuality
SIO_000300: 2.345e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.273e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.39e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

QD
type: SiteQuality
SIO_000300: 9.48e0

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1474
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1156
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19231
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9845
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 112
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variant carriers: 0

GenotypeDepth
all individuals: 145
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variant carriers: 0

GenotypeDepth
all individuals: 39
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variant carriers: 0

GenotypeDepth
all individuals: 1584
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variant carriers: 0

GenotypeDepth
all individuals: 44
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variant carriers: 0

GenotypeDepth
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3007
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 111
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19556
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4038
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18197
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2700
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1476
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2012
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1412
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3166
num of homozygotes: 0

African
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allele count: 1
allele frequency: 2.169197396963124e-4
allele num: 4610
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 802
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: 3.58e-1

InbreedingCoeff
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SIO_000300: -3.75e-2

FS
type: SiteQuality
SIO_000300: 2.363e0

DP
type: SiteQuality
SIO_000300: 6.98293e5

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

QD
type: SiteQuality
SIO_000300: 8.92e0

BaseQRankSum
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SIO_000300: 2.52e0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e-1

ClippingRankSum
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SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

African
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allele count: 1
allele frequency: 9.708737864077671e-5
allele num: 10300
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
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

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

DP
type: SiteQuality
SIO_000300: 2.323201e6

MQRankSum
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ReadPosRankSum
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SIO_000300: -2.33e-1

BaseQRankSum
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SIO_000300: 2.05e0

VQSLOD
type: SiteQuality
SIO_000300: -7.982e-1

FS
type: SiteQuality
SIO_000300: 1.227e1

InbreedingCoeff
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SIO_000300: 1.6e-3

ClippingRankSum
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SIO_000300: 4.32e-1

QD
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SIO_000300: 1.205e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508841813024323e-5
allele num: 66276
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.323238e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

FS
type: SiteQuality
SIO_000300: 2.568e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: -1.425e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.343e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

QD
type: SiteQuality
SIO_000300: 1.652e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

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

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

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

Latino
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allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.323256e6

FS
type: SiteQuality
SIO_000300: 1.115e0

ReadPosRankSum
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SIO_000300: -5.36e-1

ClippingRankSum
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MQRankSum
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VQSLOD
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QD
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SIO_000300: 1.318e1

BaseQRankSum
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SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11546
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

Other
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allele frequency: 0.0e0
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East 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: 1.508477644361311e-5
allele num: 66292
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10310
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

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

South Asian
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allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

African
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num of homozygotes: 0

East Asian
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allele frequency: 1.160092807424594e-4
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Latino
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European (Finnish)
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Other
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.508705229172324e-5
allele num: 66282
num of homozygotes: 0

DP
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9366
num of homozygotes: 0

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

Other
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.599948801638348e-5
allele num: 62502
num of homozygotes: 0

East Asian
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QD
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DP
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MQRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.681e0

FS
type: SiteQuality
SIO_000300: 1.29652e2

MQ
type: SiteQuality
SIO_000300: 5.928e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.96e-1

InbreedingCoeff
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SIO_000300: -6.1e-3

ReadPosRankSum
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SIO_000300: -1.485e0

VQSLOD
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SIO_000300: -8.301000000000001e1

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: 4.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11096
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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5612
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.05999576001696e-4
allele num: 9434
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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QD
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MQ
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InbreedingCoeff
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SIO_000300: -1.4e-3

FS
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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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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variant carriers: 0

East Asian
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allele num: 8394
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63220
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5650
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South Asian
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allele frequency: 6.239081607187422e-5
allele num: 16028
num of homozygotes: 0

African
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.22e-1

QD
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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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FS
type: SiteQuality
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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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East Asian
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allele frequency: 1.193317422434368e-4
allele num: 8380
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63122
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9404
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5610
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16014
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 7.84e-1

BaseQRankSum
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SIO_000300: -4.1e-2

MQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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DP
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SIO_000300: 1.585408e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62780
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African
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allele count: 1
allele frequency: 1.064282673478076e-4
allele num: 9396
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

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

Other
type: Population
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allele frequency: 1.131221719457014e-3
allele num: 884
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: 65624
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Latino
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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ReadPosRankSum
type: SiteQuality
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MQ
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ClippingRankSum
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FS
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QD
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VQSLOD
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DP
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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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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variant carriers: 0

European (Non-Finnish)
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allele num: 65662
num of homozygotes: 0

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

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

South Asian
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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MQ
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FS
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DP
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VQSLOD
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InbreedingCoeff
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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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Other
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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East Asian
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African
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South Asian
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European (Non-Finnish)
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allele num: 65666
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BaseQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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MQ
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DP
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InbreedingCoeff
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MQRankSum
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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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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 num: 65700
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South Asian
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East Asian
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European (Finnish)
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Other
type: Population
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African
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQ
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QD
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 77
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.520265134239411e-5
allele num: 65778
num of homozygotes: 0

South Asian
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Latino
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African
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East Asian
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Other
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num of homozygotes: 0

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

FS
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InbreedingCoeff
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BaseQRankSum
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QD
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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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: 16506
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Other
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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FS
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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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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 3.0333363666697e-5
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African
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East Asian
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South Asian
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European (Finnish)
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allele num: 6566
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Other
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MQRankSum
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QD
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ClippingRankSum
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DP
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InbreedingCoeff
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MQ
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BaseQRankSum
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FS
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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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European (Finnish)
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African
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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European (Finnish)
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South Asian
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VQSLOD
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ReadPosRankSum
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MQRankSum
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FS
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InbreedingCoeff
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QD
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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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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.823109e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.428e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.571e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.127e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.018e0

GenotypeQuality
all individuals: 1354
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.75e1
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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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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2803
bin: 8.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.073046310807904e-5
allele num: 65082
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.80866e6

VQSLOD
type: SiteQuality
SIO_000300: 9.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-1

FS
type: SiteQuality
SIO_000300: 8.92e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 3040
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.00080064051241e-4
allele num: 9992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.068708380642588e-5
allele num: 65174
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.810164e6

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

QD
type: SiteQuality
SIO_000300: 1.114e1

GenotypeQuality
all individuals: 117
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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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: 187
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6112
bin: 9.75e1
variant carriers: 11

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.61794500723589e-4
allele num: 5528
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.192463629859289e-4
allele num: 8386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.285863566600268e-4
allele num: 61246
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.811989100817438e-4
allele num: 8808
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.19e0

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.183e0

FS
type: SiteQuality
SIO_000300: 2.35455e2

DP
type: SiteQuality
SIO_000300: 1.834849e6

QD
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 5.868e1

VQSLOD
type: SiteQuality
SIO_000300: -2.609e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.039e0

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

GenotypeQuality
all individuals: 2849
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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: 1359
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variant carriers: 0

GenotypeQuality
all individuals: 8298
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
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: 2
allele frequency: 3.046180090166931e-5
allele num: 65656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.434e0

QD
type: SiteQuality
SIO_000300: 1.112e1

MQRankSum
type: SiteQuality
SIO_000300: 5.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.95e-1

FS
type: SiteQuality
SIO_000300: 3.071e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.82183e6

GenotypeQuality
all individuals: 8306
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1973
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.045623439117987e-5
allele num: 65668
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.303e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.89e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.822096e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.697164724299878e-5
allele num: 11498
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.971608832807571e-4
allele num: 10144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.926e1

QD
type: SiteQuality
SIO_000300: 1.24e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

DP
type: SiteQuality
SIO_000300: 1.818137e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
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African
type: Population
allele count: 5
allele frequency: 4.935834155972359e-4
allele num: 10130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.816024e6

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 29775
bin: 6.25e1
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.871668311944718e-5
allele num: 10130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.816024e6

QD
type: SiteQuality
SIO_000300: 1.209e1

GenotypeQuality
all individuals: 7139
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1967
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8224
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 235
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 7.5e0
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GenotypeQuality
all individuals: 73
bin: 4.75e1
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GenotypeQuality
all individuals: 2841
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3927
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29731
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65476
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.740947075208914e-4
allele num: 11488
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.252e0

DP
type: SiteQuality
SIO_000300: 1.814686e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.24e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 8190
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3908
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1958
bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 3.75e1
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GenotypeQuality
all individuals: 7209
bin: 9.75e1
variant carriers: 116

GenotypeQuality
all individuals: 1352
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3022
bin: 7.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.537515375153752e-4
allele num: 6504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 78
allele frequency: 1.192186592486168e-3
allele num: 65426
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.643340857787811e-3
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.223750652968832e-4
allele num: 11486
num of homozygotes: 0

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

South Asian
type: Population
allele count: 31
allele frequency: 1.881524641903375e-3
allele num: 16476
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

FS
type: SiteQuality
SIO_000300: 1.562e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.6e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

DP
type: SiteQuality
SIO_000300: 1.814142e6

GenotypeQuality
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 338
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variant carriers: 0

GenotypeQuality
all individuals: 8032
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variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3889
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variant carriers: 0

GenotypeQuality
all individuals: 7114
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 28534
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variant carriers: 0

GenotypeQuality
all individuals: 2818
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 9.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 20
allele frequency: 2.358490566037736e-3
allele num: 8480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65236
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.96e0

FS
type: SiteQuality
SIO_000300: 8.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

DP
type: SiteQuality
SIO_000300: 1.79648e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.78e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.278e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.969e0

GenotypeQuality
all individuals: 28219
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7098
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1933
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
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variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 523
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
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variant carriers: 0

GenotypeQuality
all individuals: 8004
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variant carriers: 0

GenotypeQuality
all individuals: 164
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variant carriers: 0

GenotypeQuality
all individuals: 2979
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.068237604320078e-5
allele num: 65184
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

QD
type: SiteQuality
SIO_000300: 1.432e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.282e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

FS
type: SiteQuality
SIO_000300: 1.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.06e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 1.792422e6

GenotypeQuality
all individuals: 7096
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 28062
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
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variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1969
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3879
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7971
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2816
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10054
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535060788407221e-5
allele num: 65144
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 3.306e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: -3.321e0

DP
type: SiteQuality
SIO_000300: 1.791063e6

GenotypeQuality
all individuals: 1958
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7095
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1348
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2966
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3875
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2812
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27951
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535862386730149e-5
allele num: 65110
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.952e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

DP
type: SiteQuality
SIO_000300: 1.788478e6

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.58e-1

QD
type: SiteQuality
SIO_000300: 1.659e1

FS
type: SiteQuality
SIO_000300: 1.2201e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2791
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2761
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1773
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3814
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 5.25e1
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GenotypeQuality
all individuals: 2888
bin: 7.25e1
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GenotypeQuality
all individuals: 23030
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1953
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2052
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7374
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.079766536964981e-5
allele num: 16448
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64844
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

FS
type: SiteQuality
SIO_000300: 3.285e0

QD
type: SiteQuality
SIO_000300: 1.317e1

DP
type: SiteQuality
SIO_000300: 1.735683e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 328
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7078
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1951
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2358
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2832
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2404
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2788
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3762
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2773
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545308443565336e-5
allele num: 64712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.538e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

DP
type: SiteQuality
SIO_000300: 1.719652e6

MQ
type: SiteQuality
SIO_000300: 5.921e1

VQSLOD
type: SiteQuality
SIO_000300: -4.506e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 1.336e1

GenotypeQuality
all individuals: 1390
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7112
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2371
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21316
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3744
bin: 7.75e1
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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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variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.730842971117571e-5
allele num: 64676
num of homozygotes: 0

East Asian
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allele count: 4
allele frequency: 4.758505829169641e-4
allele num: 8406
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.005025125628141e-4
allele num: 9950
num of homozygotes: 0

Latino
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allele frequency: 8.770391159445712e-5
allele num: 11402
num of homozygotes: 0

DP
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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MQ
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InbreedingCoeff
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SIO_000300: 2.2e-3

BaseQRankSum
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SIO_000300: -2.585e0

VQSLOD
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SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.06e-1

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64574
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.080505898090721e-5
allele num: 16446
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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FS
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QD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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VQSLOD
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MQ
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-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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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9908
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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East Asian
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allele count: 1
allele frequency: 1.196458482890644e-4
allele num: 8358
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11352
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6400
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
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VQSLOD
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DP
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QD
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 9822
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.259780907668232e-5
allele num: 63900
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e-1

MQRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
allele frequency: 1.218620521569583e-4
allele num: 16412
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.462282398452611e-4
allele num: 8272
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.69013820273904e-5
allele num: 63964
num of homozygotes: 0

Latino
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allele count: 6
allele frequency: 5.317263381779511e-4
allele num: 11284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
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African
type: Population
allele count: 54
allele frequency: 5.494505494505495e-3
allele num: 9828
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.167e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.425e1

DP
type: SiteQuality
SIO_000300: 1.656707e6

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

VQSLOD
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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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63964
num of homozygotes: 0

European (Finnish)
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East Asian
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Latino
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allele frequency: 8.862105636299185e-5
allele num: 11284
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South Asian
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African
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Other
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ReadPosRankSum
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MQRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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VQSLOD
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MQ
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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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East Asian
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African
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South Asian
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allele num: 16508
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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
type: Population
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FS
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VQSLOD
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QD
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InbreedingCoeff
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MQ
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BaseQRankSum
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DP
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MQRankSum
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ClippingRankSum
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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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East Asian
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allele count: 1
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allele num: 8628
num of homozygotes: 0

Other
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European (Non-Finnish)
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South Asian
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Latino
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African
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European (Finnish)
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allele frequency: 0.0e0
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FS
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MQRankSum
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QD
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQ
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 1
allele frequency: 1.017087062652563e-4
allele num: 9832
num of homozygotes: 0

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

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

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

Other
type: Population
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DP
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ClippingRankSum
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FS
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MQ
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-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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bin: 6.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
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GenotypeQuality
all individuals: 2403
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65248
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.51e-1

FS
type: SiteQuality
SIO_000300: 1.3107e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.304e0

VQSLOD
type: SiteQuality
SIO_000300: -3.746e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 2.464048e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.94e0

QD
type: SiteQuality
SIO_000300: 1.521e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele count: 5
allele frequency: 5.070993914807302e-4
allele num: 9860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65286
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.255e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.72e-1

DP
type: SiteQuality
SIO_000300: 2.46657e6

QD
type: SiteQuality
SIO_000300: 1.325e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.011531458628363e-4
allele num: 9886
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.460207612456747e-4
allele num: 11560
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65384
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.747e0

QD
type: SiteQuality
SIO_000300: 1.098e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

DP
type: SiteQuality
SIO_000300: 2.468271e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

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
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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: 48
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527837193668643e-5
allele num: 65452
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.469975e6

VQSLOD
type: SiteQuality
SIO_000300: -1.202e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.169e0

MQ
type: SiteQuality
SIO_000300: 5.707e1

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

QD
type: SiteQuality
SIO_000300: 1.137e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9972
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65572
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.389e0

DP
type: SiteQuality
SIO_000300: 2.473554e6

VQSLOD
type: SiteQuality
SIO_000300: 7.49e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.23e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.617e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523368472366096e-5
allele num: 65644
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.096e0

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.971405877680699e-4
allele num: 10072
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.041270034366351e-5
allele num: 65762
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.489e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 5.977e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65834
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-1

MQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.373e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.18e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

BaseQRankSum
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SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 2.483286e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66242
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.883e1

VQSLOD
type: SiteQuality
SIO_000300: -1.232e0

QD
type: SiteQuality
SIO_000300: 1.311e1

InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

BaseQRankSum
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SIO_000300: -1.416e0

DP
type: SiteQuality
SIO_000300: 2.48881e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.343e0

FS
type: SiteQuality
SIO_000300: 8.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.75e1
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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
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.017683626048645e-5
allele num: 66276
num of homozygotes: 1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
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
type: SiteQuality
SIO_000300: 3.18e-2

QD
type: SiteQuality
SIO_000300: 1.584e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

DP
type: SiteQuality
SIO_000300: 2.490238e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.212e0

FS
type: SiteQuality
SIO_000300: 5.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.98e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

QD
type: SiteQuality
SIO_000300: 1.269e1

DP
type: SiteQuality
SIO_000300: 2.493469e6

FS
type: SiteQuality
SIO_000300: 4.808e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-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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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 4.456e0

DP
type: SiteQuality
SIO_000300: 2.495811e6

QD
type: SiteQuality
SIO_000300: 1.396e1

MQ
type: SiteQuality
SIO_000300: 5.937e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.850000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.06e-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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.39e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

MQRankSum
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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