1-12557694-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12557694
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12557694
    reference: chr 1
allele count: 1
allele frequency: 8.425309630128907e-6
allele num: 118690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12719+9G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-239+9G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9259+9G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.206+9G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2280+9G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.406+9G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.788+9G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12794+9G>A
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-12557694-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12557694
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12557694
    reference: chr 1
allele count: 2
allele frequency: 1.685061926025781e-5
allele num: 118690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.406+9G>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.206+9G>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12719+9G>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2280+9G>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.788+9G>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-239+9G>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12794+9G>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9259+9G>C
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12371
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25551
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

1-12557698-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12557698
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12557698
    reference: chr 1
allele count: 1
allele frequency: 8.456373568758774e-6
allele num: 118254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.206+13A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12719+13A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-239+13A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2280+13A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12794+13A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9259+13A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.788+13A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.406+13A>G
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3533
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-12557710-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12557710
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12557710
    reference: chr 1
allele count: 2
allele frequency: 1.704826363434884e-5
allele num: 117314
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12794+25C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12719+25C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2280+25C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.788+25C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-239+25C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.206+25C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9259+25C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.406+25C>T
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8710
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21344
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

1-12557712-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12557712
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12557712
    reference: chr 1
allele count: 1
allele frequency: 8.526457597926366e-6
allele num: 117282
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12794+27C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12719+27C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.406+27C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9259+27C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.206+27C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-239+27C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.788+27C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2280+27C>T
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-12557713-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12557713
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12557713
    reference: chr 1
allele count: 1
allele frequency: 8.533005665915763e-6
allele num: 117192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2280+28T>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12794+28T>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-239+28T>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9259+28T>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.406+28T>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.206+28T>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12719+28T>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.788+28T>C
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7872
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8381
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

1-12557716-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12557716
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12557716
    reference: chr 1
allele count: 1
allele frequency: 8.549054474575111e-6
allele num: 116972
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12794+31G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9259+31G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12719+31G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2280+31G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.788+31G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.406+31G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-239+31G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.206+31G>A
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5791
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

1-12557730-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12557730
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12557730
    reference: chr 1
allele count: 2
allele frequency: 1.735598868389538e-5
allele num: 115234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.788+45G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2280+45G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12794+45G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.406+45G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-239+45G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.206+45G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9259+45G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12719+45G>A
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11627
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11343
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6159
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

1-12557737-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12557737
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12557737
    reference: chr 1
allele count: 2
allele frequency: 1.756759130755582e-5
allele num: 113846
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.406+52C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.206+52C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12719+52C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.788+52C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12794+52C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2280+52C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9259+52C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-239+52C>G
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13583
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10049
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3094
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5335
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5871
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6489
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6225
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

1-12566863-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566863
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566863
    reference: chr 1
allele count: 3
allele frequency: 2.587054379883065e-5
allele num: 115962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.407-44C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.207-44C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.789-44C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12720-44C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9260-44C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2281-44C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12795-44C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-238-44C>T
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

1-12566864-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566864
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566864
    reference: chr 1
allele count: 1
allele frequency: 8.604074889867842e-6
allele num: 116224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2281-43G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9260-43G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.207-43G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-238-43G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12720-43G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.789-43G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.407-43G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12795-43G>A
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-12566865-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566865
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566865
    reference: chr 1
allele count: 1
allele frequency: 8.597269507204511e-6
allele num: 116316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9260-42A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2281-42A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.407-42A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12720-42A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12795-42A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-238-42A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.207-42A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.789-42A>G
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37639
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-12566868-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566868
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566868
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 116268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2281-39C>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9260-39C>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12720-39C>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.407-39C>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12795-39C>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.789-39C>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.207-39C>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-238-39C>A
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4496
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

1-12566873-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566873
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566873
    reference: chr 1
allele count: 2
allele frequency: 1.715442412598209e-5
allele num: 116588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2281-34G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.789-34G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.207-34G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.407-34G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9260-34G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12795-34G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12720-34G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-238-34G>A
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5036
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

1-12566881-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566881
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566881
    reference: chr 1
allele count: 1
allele frequency: 8.540730744922536e-6
allele num: 117086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.207-26T>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2281-26T>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12720-26T>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-238-26T>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12795-26T>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.407-26T>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9260-26T>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.789-26T>A
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

1-12566889-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566889
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566889
    reference: chr 1
allele count: 1
allele frequency: 8.494300324482272e-6
allele num: 117726
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.207-18T>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9260-18T>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.789-18T>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2281-18T>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.407-18T>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12720-18T>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-238-18T>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12795-18T>G
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6586
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

1-12566890-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566890
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566890
    reference: chr 1
allele count: 1
allele frequency: 8.487379267029927e-6
allele num: 117822
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.407-17C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9260-17C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12795-17C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2281-17C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-238-17C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.207-17C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.789-17C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12720-17C>G
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6587
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6448
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

1-12566892-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566892
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566892
    reference: chr 1
allele count: 11
allele frequency: 9.311775162956066e-5
allele num: 118130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.407-15C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12720-15C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2281-15C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9260-15C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.207-15C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-238-15C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.789-15C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12795-15C>T
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7351
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6707
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

1-12566893-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566893
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566893
    reference: chr 1
allele count: 15
allele frequency: 1.266015090899883e-4
allele num: 118482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.207-14G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.789-14G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.407-14G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12720-14G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2281-14G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-238-14G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9260-14G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12795-14G>A
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7351
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

1-12566895-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566895
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566895
    reference: chr 1
allele count: 2
allele frequency: 1.682935038707506e-5
allele num: 118840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.789-12C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9260-12C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2281-12C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12720-12C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.207-12C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12795-12C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.407-12C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-238-12C>G
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37687
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

1-12566897-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566897
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566897
    reference: chr 1
allele count: 1
allele frequency: 8.397292712829384e-6
allele num: 119086
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.789-10C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.407-10C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-238-10C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2281-10C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9260-10C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12795-10C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.207-10C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12720-10C>G
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

1-12566897-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566897
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566897
    reference: chr 1
allele count: 3
allele frequency: 2.519187813848815e-5
allele num: 119086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.789-10C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-238-10C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2281-10C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.207-10C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.407-10C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9260-10C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12795-10C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12720-10C>T
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7355
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37685
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-12566898-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566898
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566898
    reference: chr 1
allele count: 3
allele frequency: 2.512731171267757e-5
allele num: 119392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9260-9G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12795-9G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.407-9G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12720-9G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-238-9G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.789-9G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2281-9G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.207-9G>A
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7882
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-12566906-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566906
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566906
    reference: chr 1
allele count: 1
allele frequency: 8.307441806370146e-6
allele num: 120374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.207-1G>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2281-1G>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.789-1G>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-238-1G>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9260-1G>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12720-1G>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.407-1G>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12795-1G>C
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7357
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
hgvs: c.12795-1G>C
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

1-12566913-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566913
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566913
    reference: chr 1
allele count: 3
allele frequency: 2.483279253029601e-5
allele num: 120808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2287C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-232C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.213C>T
  hgvsp: ENST00000543710.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12801C>T
  hgvsp: ENST00000358136.3:c.12801C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.795C>T
  hgvsp: ENST00000543766.1:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.413C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9266C>T
  hgvsp: ENST00000011700.6:c.9266C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12726C>T
  hgvsp: ENST00000356315.4:c.12726C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6616
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile4267Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

1-12566920-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566920
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566920
    reference: chr 1
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.220G>A
  hgvsp: ENSP00000444120.1:p.Glu74Lys
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.802G>A
  hgvsp: ENSP00000441122.1:p.Glu268Lys
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9273G>A
  hgvsp: ENSP00000011700.6:p.Glu3092Lys
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-225G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2294G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12808G>A
  hgvsp: ENSP00000350854.3:p.Glu4270Lys
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.420G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12733G>A
  hgvsp: ENSP00000348666.4:p.Glu4245Lys
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu4270Lys
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-12566926-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566926
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566926
    reference: chr 1
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2300A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9279A>G
  hgvsp: ENSP00000011700.6:p.Ile3094Val
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12739A>G
  hgvsp: ENSP00000348666.4:p.Ile4247Val
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.426A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.808A>G
  hgvsp: ENSP00000441122.1:p.Ile270Val
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12814A>G
  hgvsp: ENSP00000350854.3:p.Ile4272Val
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.226A>G
  hgvsp: ENSP00000444120.1:p.Ile76Val
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-219A>G
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile4272Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

1-12566932-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566932
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566932
    reference: chr 1
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12745A>G
  hgvsp: ENSP00000348666.4:p.Ser4249Gly
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.432A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-213A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12820A>G
  hgvsp: ENSP00000350854.3:p.Ser4274Gly
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2306A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.814A>G
  hgvsp: ENSP00000441122.1:p.Ser272Gly
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9285A>G
  hgvsp: ENSP00000011700.6:p.Ser3096Gly
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.232A>G
  hgvsp: ENSP00000444120.1:p.Ser78Gly
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser4274Gly
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

1-12566940-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566940
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566940
    reference: chr 1
allele count: 7
allele frequency: 5.767963085036256e-5
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12828C>T
  hgvsp: ENST00000358136.3:c.12828C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.240C>T
  hgvsp: ENST00000543710.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12753C>T
  hgvsp: ENST00000356315.4:c.12753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9293C>T
  hgvsp: ENST00000011700.6:c.9293C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.822C>T
  hgvsp: ENST00000543766.1:c.822C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.440C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-205C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2314C>T
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7362
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37702
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Cys4276Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

1-12566941-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566941
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566941
    reference: chr 1
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9294G>A
  hgvsp: ENSP00000011700.6:p.Val3099Met
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2315G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.823G>A
  hgvsp: ENSP00000441122.1:p.Val275Met
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12754G>A
  hgvsp: ENSP00000348666.4:p.Val4252Met
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-204G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12829G>A
  hgvsp: ENSP00000350854.3:p.Val4277Met
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.441G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.241G>A
  hgvsp: ENSP00000444120.1:p.Val81Met
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7322
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9345
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val4277Met
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-12566946-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566946
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566946
    reference: chr 1
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12759C>T
  hgvsp: ENST00000356315.4:c.12759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2320C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.446C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12834C>T
  hgvsp: ENST00000358136.3:c.12834C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.828C>T
  hgvsp: ENST00000543766.1:c.828C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-199C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.246C>T
  hgvsp: ENST00000543710.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9299C>T
  hgvsp: ENST00000011700.6:c.9299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu4278Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

1-12566947-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566947
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566947
    reference: chr 1
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9300A>G
  hgvsp: ENSP00000011700.6:p.Ile3101Val
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.247A>G
  hgvsp: ENSP00000444120.1:p.Ile83Val
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.447A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12835A>G
  hgvsp: ENSP00000350854.3:p.Ile4279Val
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12760A>G
  hgvsp: ENSP00000348666.4:p.Ile4254Val
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2321A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-198A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.829A>G
  hgvsp: ENSP00000441122.1:p.Ile277Val
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile4279Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

1-12566956-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566956
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566956
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.838A>G
  hgvsp: ENSP00000441122.1:p.Lys280Glu
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9309A>G
  hgvsp: ENSP00000011700.6:p.Lys3104Glu
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12769A>G
  hgvsp: ENSP00000348666.4:p.Lys4257Glu
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.456A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2330A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-189A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.256A>G
  hgvsp: ENSP00000444120.1:p.Lys86Glu
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12844A>G
  hgvsp: ENSP00000350854.3:p.Lys4282Glu
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys4282Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/1-12566958-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566958
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566958
    reference: chr 1
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000473099
  gene symbol: VPS13D
  hgvsc: ENST00000473099.1:n.458A>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12771A>C
  hgvsp: ENSP00000348666.4:p.Lys4257Asn
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.840A>C
  hgvsp: ENSP00000441122.1:p.Lys280Asn
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12846A>C
  hgvsp: ENSP00000350854.3:p.Lys4282Asn
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.258A>C
  hgvsp: ENSP00000444120.1:p.Lys86Asn
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2332A>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9311A>C
  hgvsp: ENSP00000011700.6:p.Lys3104Asn
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-187A>C
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys4282Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

1-12566967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566967
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566967
    reference: chr 1
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2341C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9320C>T
  hgvsp: ENST00000011700.6:c.9320C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12780C>T
  hgvsp: ENST00000356315.4:c.12780C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.267C>T
  hgvsp: ENST00000543710.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.849C>T
  hgvsp: ENST00000543766.1:c.849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12855C>T
  hgvsp: ENST00000358136.3:c.12855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-178C>T
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37708
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr4285Tyr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-12566978-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566978
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566978
    reference: chr 1
allele count: 27
allele frequency: 2.22401607881254e-4
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12791G>A
  hgvsp: ENSP00000348666.4:p.Ser4264Asn
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-167G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.860G>A
  hgvsp: ENSP00000441122.1:p.Ser287Asn
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9331G>A
  hgvsp: ENSP00000011700.6:p.Ser3111Asn
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.278G>A
  hgvsp: ENSP00000444120.1:p.Ser93Asn
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2352G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12866G>A
  hgvsp: ENSP00000350854.3:p.Ser4289Asn
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2829
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9397
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser4289Asn
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

1-12566989-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566989
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566989
    reference: chr 1
allele count: 41
allele frequency: 3.377153965272973e-4
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12877G>A
  hgvsp: ENSP00000350854.3:p.Val4293Met
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2363G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12802G>A
  hgvsp: ENSP00000348666.4:p.Val4268Met
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9342G>A
  hgvsp: ENSP00000011700.6:p.Val3115Met
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.871G>A
  hgvsp: ENSP00000441122.1:p.Val291Met
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-156G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.289G>A
  hgvsp: ENSP00000444120.1:p.Val97Met
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 6625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5584
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37722
  bin: 9.75e1
  variant carriers: 41
hgvs: p.Val4293Met
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

1-12566993-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566993
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566993
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.293A>G
  hgvsp: ENSP00000444120.1:p.Asp98Gly
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12806A>G
  hgvsp: ENSP00000348666.4:p.Asp4269Gly
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12881A>G
  hgvsp: ENSP00000350854.3:p.Asp4294Gly
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9346A>G
  hgvsp: ENSP00000011700.6:p.Asp3116Gly
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.875A>G
  hgvsp: ENSP00000441122.1:p.Asp292Gly
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2367A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-152A>G
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp4294Gly
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-12566995-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566995
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566995
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9348C>T
  hgvsp: ENSP00000011700.6:p.Arg3117Ter
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12808C>T
  hgvsp: ENSP00000348666.4:p.Arg4270Ter
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12883C>T
  hgvsp: ENSP00000350854.3:p.Arg4295Ter
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2369C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.295C>T
  hgvsp: ENSP00000444120.1:p.Arg99Ter
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.877C>T
  hgvsp: ENSP00000441122.1:p.Arg293Ter
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-150C>T
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37717
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg4295Ter
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

1-12566996-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12566996
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12566996
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-149G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2370G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.878G>A
  hgvsp: ENSP00000441122.1:p.Arg293Gln
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.296G>A
  hgvsp: ENSP00000444120.1:p.Arg99Gln
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12809G>A
  hgvsp: ENSP00000348666.4:p.Arg4270Gln
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9349G>A
  hgvsp: ENSP00000011700.6:p.Arg3117Gln
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12884G>A
  hgvsp: ENSP00000350854.3:p.Arg4295Gln
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37717
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9409
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg4295Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-12567004-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567004
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567004
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.886A>G
  hgvsp: ENSP00000441122.1:p.Ile296Val
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12817A>G
  hgvsp: ENSP00000348666.4:p.Ile4273Val
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9357A>G
  hgvsp: ENSP00000011700.6:p.Ile3120Val
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.304A>G
  hgvsp: ENSP00000444120.1:p.Ile102Val
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2378A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-141A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12892A>G
  hgvsp: ENSP00000350854.3:p.Ile4298Val
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9416
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile4298Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ

1-12567024-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567024
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567024
    reference: chr 1
allele count: 5
allele frequency: 4.118480445454845e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12837C>T
  hgvsp: ENST00000356315.4:c.12837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12912C>T
  hgvsp: ENST00000358136.3:c.12912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-121C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9377C>T
  hgvsp: ENST00000011700.6:c.9377C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.324C>T
  hgvsp: ENST00000543710.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2398C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.906C>T
  hgvsp: ENST00000543766.1:c.906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr4304Tyr
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-12567036-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567036
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567036
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9389C>T
  hgvsp: ENST00000011700.6:c.9389C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12924C>T
  hgvsp: ENST00000358136.3:c.12924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.918C>T
  hgvsp: ENST00000543766.1:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12849C>T
  hgvsp: ENST00000356315.4:c.12849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-109C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.336C>T
  hgvsp: ENST00000543710.1:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2410C>T
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr4308Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

1-12567047-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567047
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567047
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9400T>C
  hgvsp: ENSP00000011700.6:p.Val3134Ala
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12935T>C
  hgvsp: ENSP00000350854.3:p.Val4312Ala
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12860T>C
  hgvsp: ENSP00000348666.4:p.Val4287Ala
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.347T>C
  hgvsp: ENSP00000444120.1:p.Val116Ala
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-98T>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.929T>C
  hgvsp: ENSP00000441122.1:p.Val310Ala
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2421T>C
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37718
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val4312Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-12567052-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567052
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567052
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.934A>G
  hgvsp: ENSP00000441122.1:p.Lys312Glu
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12865A>G
  hgvsp: ENSP00000348666.4:p.Lys4289Glu
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.352A>G
  hgvsp: ENSP00000444120.1:p.Lys118Glu
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12940A>G
  hgvsp: ENSP00000350854.3:p.Lys4314Glu
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9405A>G
  hgvsp: ENSP00000011700.6:p.Lys3136Glu
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-93A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2426A>G
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys4314Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-12567058-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567058
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567058
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-87C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.358C>T
  hgvsp: ENSP00000444120.1:p.His120Tyr
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9411C>T
  hgvsp: ENSP00000011700.6:p.His3138Tyr
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.940C>T
  hgvsp: ENSP00000441122.1:p.His314Tyr
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2432C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12871C>T
  hgvsp: ENSP00000348666.4:p.His4291Tyr
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12946C>T
  hgvsp: ENSP00000350854.3:p.His4316Tyr
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His4316Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

1-12567066-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567066
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567066
    reference: chr 1
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9419G>T
  hgvsp: ENSP00000011700.6:p.Lys3140Asn
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12954G>T
  hgvsp: ENSP00000350854.3:p.Lys4318Asn
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.948G>T
  hgvsp: ENSP00000441122.1:p.Lys316Asn
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-79G>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.366G>T
  hgvsp: ENSP00000444120.1:p.Lys122Asn
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2440G>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12879G>T
  hgvsp: ENSP00000348666.4:p.Lys4293Asn
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37719
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys4318Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-12567072-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567072
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567072
    reference: chr 1
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12885T>C
  hgvsp: ENST00000356315.4:c.12885T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.954T>C
  hgvsp: ENST00000543766.1:c.954T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9425T>C
  hgvsp: ENST00000011700.6:c.9425T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12960T>C
  hgvsp: ENST00000358136.3:c.12960T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2446T>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.372T>C
  hgvsp: ENST00000543710.1:c.372T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-73T>C
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9350
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37719
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr4320Tyr
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

1-12567082-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567082
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567082
    reference: chr 1
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12970A>G
  hgvsp: ENSP00000350854.3:p.Thr4324Ala
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12895A>G
  hgvsp: ENSP00000348666.4:p.Thr4299Ala
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9435A>G
  hgvsp: ENSP00000011700.6:p.Thr3146Ala
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.382A>G
  hgvsp: ENSP00000444120.1:p.Thr128Ala
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.964A>G
  hgvsp: ENSP00000441122.1:p.Thr322Ala
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-63A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2456A>G
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr4324Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-12567086-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567086
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567086
    reference: chr 1
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.968A>G
  hgvsp: ENSP00000441122.1:p.Lys323Arg
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.386A>G
  hgvsp: ENSP00000444120.1:p.Lys129Arg
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12974A>G
  hgvsp: ENSP00000350854.3:p.Lys4325Arg
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12899A>G
  hgvsp: ENSP00000348666.4:p.Lys4300Arg
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-59A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2460A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9439A>G
  hgvsp: ENSP00000011700.6:p.Lys3147Arg
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9323
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys4325Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-12567093-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567093
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567093
    reference: chr 1
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12906C>T
  hgvsp: ENST00000356315.4:c.12906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.975C>T
  hgvsp: ENST00000543766.1:c.975C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9446C>T
  hgvsp: ENST00000011700.6:c.9446C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2467C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-52C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12981C>T
  hgvsp: ENST00000358136.3:c.12981C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.393C>T
  hgvsp: ENST00000543710.1:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala4327Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

1-12567101-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567101
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567101
    reference: chr 1
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9454C>T
  hgvsp: ENSP00000011700.6:p.Thr3152Met
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2475C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-44C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.12989C>T
  hgvsp: ENSP00000350854.3:p.Thr4330Met
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12914C>T
  hgvsp: ENSP00000348666.4:p.Thr4305Met
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.401C>T
  hgvsp: ENSP00000444120.1:p.Thr134Met
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.983C>T
  hgvsp: ENSP00000441122.1:p.Thr328Met
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37720
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr4330Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-12567112-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567112
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567112
    reference: chr 1
allele count: 7
allele frequency: 5.774434105457665e-5
allele num: 121224
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.994G>C
  hgvsp: ENSP00000441122.1:p.Val332Leu
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.412G>C
  hgvsp: ENSP00000444120.1:p.Val138Leu
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12925G>C
  hgvsp: ENSP00000348666.4:p.Val4309Leu
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2486G>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.13000G>C
  hgvsp: ENSP00000350854.3:p.Val4334Leu
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9465G>C
  hgvsp: ENSP00000011700.6:p.Val3156Leu
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-33G>C
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37722
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val4334Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum

1-12567114-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567114
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567114
    reference: chr 1
allele count: 2
allele frequency: 1.650464605786529e-5
allele num: 121178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12927G>A
  hgvsp: ENST00000356315.4:c.12927G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.996G>A
  hgvsp: ENST00000543766.1:c.996G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-31G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.414G>A
  hgvsp: ENST00000543710.1:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2488G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9467G>A
  hgvsp: ENST00000011700.6:c.9467G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.13002G>A
  hgvsp: ENST00000358136.3:c.13002G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2754
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val4334Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

1-12567123-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567123
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567123
    reference: chr 1
allele count: 2
allele frequency: 1.65180046250413e-5
allele num: 121080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.1005C>T
  hgvsp: ENST00000543766.1:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9476C>T
  hgvsp: ENST00000011700.6:c.9476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-22C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2497C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12936C>T
  hgvsp: ENST00000356315.4:c.12936C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.13011C>T
  hgvsp: ENST00000358136.3:c.13011C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.423C>T
  hgvsp: ENST00000543710.1:c.423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro4337Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

1-12567125-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567125
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567125
    reference: chr 1
allele count: 1
allele frequency: 8.259820927082301e-6
allele num: 121068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9478G>T
  hgvsp: ENSP00000011700.6:p.Gly3160Val
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.13013G>T
  hgvsp: ENSP00000350854.3:p.Gly4338Val
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-20G>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12938G>T
  hgvsp: ENSP00000348666.4:p.Gly4313Val
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2499G>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.425G>T
  hgvsp: ENSP00000444120.1:p.Gly142Val
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.1007G>T
  hgvsp: ENSP00000441122.1:p.Gly336Val
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8940
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37722
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly4338Val
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

1-12567127-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567127
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567127
    reference: chr 1
allele count: 129
allele frequency: 1.065728164964806e-3
allele num: 121044
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-18C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2501C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.427C>G
  hgvsp: ENSP00000444120.1:p.Pro143Ala
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.13015C>G
  hgvsp: ENSP00000350854.3:p.Pro4339Ala
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9480C>G
  hgvsp: ENSP00000011700.6:p.Pro3161Ala
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12940C>G
  hgvsp: ENSP00000348666.4:p.Pro4314Ala
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.1009C>G
  hgvsp: ENSP00000441122.1:p.Pro337Ala
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7277
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8847
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro4339Ala
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

1-12567131-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567131
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567131
    reference: chr 1
allele count: 2
allele frequency: 1.652755970580944e-5
allele num: 121010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.13019C>T
  hgvsp: ENSP00000350854.3:p.Ser4340Phe
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9484C>T
  hgvsp: ENSP00000011700.6:p.Ser3162Phe
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.1013C>T
  hgvsp: ENSP00000441122.1:p.Ser338Phe
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2505C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12944C>T
  hgvsp: ENSP00000348666.4:p.Ser4315Phe
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.431C>T
  hgvsp: ENSP00000444120.1:p.Ser144Phe
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8782
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser4340Phe
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-12567133-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567133
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567133
    reference: chr 1
allele count: 1
allele frequency: 8.265145879824779e-6
allele num: 120990
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.13021C>T
  hgvsp: ENSP00000350854.3:p.His4341Tyr
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12946C>T
  hgvsp: ENSP00000348666.4:p.His4316Tyr
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.433C>T
  hgvsp: ENSP00000444120.1:p.His145Tyr
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.1015C>T
  hgvsp: ENSP00000441122.1:p.His339Tyr
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9486C>T
  hgvsp: ENSP00000011700.6:p.His3163Tyr
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2507C>T
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His4341Tyr
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-12567156-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567156
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567156
    reference: chr 1
allele count: 3
allele frequency: 2.486036760196894e-5
allele num: 120674
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12960+9C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2521+9C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.447+9C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.1029+9C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9500+9C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.13035+9C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.3+9C>G
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7675
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-12567160-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567160
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567160
    reference: chr 1
allele count: 6931
allele frequency: 5.746049642685414e-2
allele num: 120622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.3+13C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2521+13C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.447+13C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9500+13C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12960+13C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.1029+13C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.13035+13C>T
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 3.25e1
  variant carriers: 219
genotype depth: GenotypeDepth
  all individuals: 6622
  bin: 4.25e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 6523
  bin: 4.75e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.75e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 1.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 8.25e1
  variant carriers: 179
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 2.75e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 5.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 9.75e1
  variant carriers: 4350
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 3.75e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 7.25e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 244
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.75e1
  variant carriers: 218
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 2.25e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 6.75e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 6.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 5.75e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 7.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.75e1
  variant carriers: 1
num of homozygotes: 310
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ

1-12567182-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567182
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567182
    reference: chr 1
allele count: 2
allele frequency: 1.665695011243441e-5
allele num: 120070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2521+35C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.447+35C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.3+35C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.13035+35C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9500+35C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12960+35C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.1029+35C>T
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

1-12567183-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567183
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567183
    reference: chr 1
allele count: 3
allele frequency: 2.497627254108597e-5
allele num: 120114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2521+36G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.447+36G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.1029+36G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9500+36G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.13035+36G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.3+36G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12960+36G>A
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-12567187-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567187
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567187
    reference: chr 1
allele count: 1
allele frequency: 8.335695113615524e-6
allele num: 119966
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2521+40C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.447+40C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.13035+40C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.3+40C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9500+40C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12960+40C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.1029+40C>T
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38502
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

1-12567189-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567189
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567189
    reference: chr 1
allele count: 22
allele frequency: 1.833333333333333e-4
allele num: 120000
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.3+42A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12960+42A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.13035+42A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.447+42A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2521+42A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.1029+42A>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9500+42A>G
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4910
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4559
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-12567191-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567191
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567191
    reference: chr 1
allele count: 1
allele frequency: 8.337780149413021e-6
allele num: 119936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9500+44G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2521+44G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.13035+44G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.1029+44G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.447+44G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.3+44G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12960+44G>A
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38506
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 692
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-12567196-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567196
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567196
    reference: chr 1
allele count: 1
allele frequency: 8.353800143685363e-6
allele num: 119706
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2521+49C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.13035+49C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12960+49C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.3+49C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9500+49C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.447+49C>G
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.1029+49C>G
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38509
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-12567196-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567196
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567196
    reference: chr 1
allele count: 3
allele frequency: 2.506140043105609e-5
allele num: 119706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9500+49C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2521+49C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.3+49C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12960+49C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.13035+49C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.447+49C>T
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.1029+49C>T
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38509
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

1-12567197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567197
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567197
    reference: chr 1
allele count: 1
allele frequency: 8.355614973262032e-6
allele num: 119680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2521+50G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9500+50G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.447+50G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.13035+50G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.3+50G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12960+50G>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.1029+50G>A
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS

http://identifiers.org/exac.variant/1-12567198-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567198
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567198
    reference: chr 1
allele count: 5
allele frequency: 4.175923296640887e-5
allele num: 119734
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.3+51A>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12960+51A>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.13035+51A>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.1029+51A>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9500+51A>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2521+51A>C
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.447+51A>C
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

1-12567253-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12567253
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 12567253
    reference: chr 1
allele count: 11
allele frequency: 9.571876087713192e-5
allele num: 114920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000011700
  ensembl transcript: ENST00000011700
  gene symbol: VPS13D
  hgvsc: ENST00000011700.6:c.9500+106T>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000348666
  ensembl transcript: ENST00000356315
  gene symbol: VPS13D
  hgvsc: ENST00000356315.4:c.12960+106T>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl transcript: ENST00000496628
  gene symbol: VPS13D
  hgvsc: ENST00000496628.1:n.2521+106T>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000350854
  ensembl transcript: ENST00000358136
  gene symbol: VPS13D
  hgvsc: ENST00000358136.3:c.13035+106T>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000444120
  ensembl transcript: ENST00000543710
  gene symbol: VPS13D
  hgvsc: ENST00000543710.1:c.447+106T>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000469344
  ensembl transcript: ENST00000471923
  gene symbol: VPS13D
  hgvsc: ENST00000471923.1:c.3+106T>A
  variant of: http://identifiers.org/hgnc/23595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000048707
  ensembl protein: ENSP00000441122
  ensembl transcript: ENST00000543766
  gene symbol: VPS13D
  hgvsc: ENST00000543766.1:c.1029+106T>A
  variant of: http://identifiers.org/hgnc/23595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10512
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6995
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

GenotypeQuality
all individuals: 105
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2950
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2952
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3543
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34812
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15686
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.80126738250308e-5
allele num: 11362
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.669891e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.66e-1

FS
type: SiteQuality
SIO_000300: 4.151e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

QD
type: SiteQuality
SIO_000300: 1.182e1

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34812
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.972775695403433e-4
allele num: 10138
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15686
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

QD
type: SiteQuality
SIO_000300: 1.182e1

VQSLOD
type: SiteQuality
SIO_000300: 4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 4.151e0

DP
type: SiteQuality
SIO_000300: 1.669891e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 772
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7053
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65400
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.826125330979699e-5
allele num: 11330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15510
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 1.644081e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.028e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.646e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.02e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 739
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11290
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538082933431771e-5
allele num: 65016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.610259122157589e-5
allele num: 15128
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.523e-1

FS
type: SiteQuality
SIO_000300: 2.655e0

DP
type: SiteQuality
SIO_000300: 1.56482e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-1

QD
type: SiteQuality
SIO_000300: 9.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1916
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3504
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variant carriers: 1

GenotypeQuality
all individuals: 2268
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538508877196221e-5
allele num: 64998
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15138
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

FS
type: SiteQuality
SIO_000300: 7.548e0

QD
type: SiteQuality
SIO_000300: 1.289e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.73e-1

DP
type: SiteQuality
SIO_000300: 1.554533e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.247e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3503
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2446
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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
all individuals: 1671
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variant carriers: 0

GenotypeQuality
all individuals: 1899
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GenotypeQuality
all individuals: 389
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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.189060642092747e-4
allele num: 8410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64988
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15098
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.652e0

MQRankSum
type: SiteQuality
SIO_000300: -1.343e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.5e-1

QD
type: SiteQuality
SIO_000300: 1.564e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.03e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.93e-1

DP
type: SiteQuality
SIO_000300: 1.54603e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

GenotypeQuality
all individuals: 2522
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
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GenotypeQuality
all individuals: 1030
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2501
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GenotypeQuality
all individuals: 958
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 712
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variant carriers: 0

GenotypeQuality
all individuals: 3499
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3108
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.996001599360256e-5
allele num: 10004
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15028
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.79e-1

FS
type: SiteQuality
SIO_000300: 1.989e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.738e0

VQSLOD
type: SiteQuality
SIO_000300: -1.294e0

QD
type: SiteQuality
SIO_000300: 1.668e1

DP
type: SiteQuality
SIO_000300: 1.518519e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.015022330491271e-4
allele num: 9852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559429872438636e-5
allele num: 64126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8312
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

DP
type: SiteQuality
SIO_000300: 1.410932e6

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.549e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.75e-1

FS
type: SiteQuality
SIO_000300: 3.827e0

QD
type: SiteQuality
SIO_000300: 3.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.03e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 945
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4566
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GenotypeQuality
all individuals: 2212
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.151095005514416e-5
allele num: 63470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11032
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14086
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.137e0

MQRankSum
type: SiteQuality
SIO_000300: 8.54e-1

DP
type: SiteQuality
SIO_000300: 1.39421e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-2

FS
type: SiteQuality
SIO_000300: 4.397e0

QD
type: SiteQuality
SIO_000300: 1.478e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 257
bin: 5.25e1
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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variant carriers: 3

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12992
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162250116225012e-4
allele num: 8604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.060256449490467e-5
allele num: 65354
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

MQRankSum
type: SiteQuality
SIO_000300: 5.47e-1

DP
type: SiteQuality
SIO_000300: 2.657275e6

QD
type: SiteQuality
SIO_000300: 1.295e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.974e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 253
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 788
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variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2262
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GenotypeQuality
all individuals: 37631
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variant carriers: 1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

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

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65436
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.99e-1

MQ
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

FS
type: SiteQuality
SIO_000300: 4.549e0

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13194
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.916e0

ClippingRankSum
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InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

MQ
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SIO_000300: 5.937e1

BaseQRankSum
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SIO_000300: 2.56e0

MQRankSum
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SIO_000300: 4.5e-1

FS
type: SiteQuality
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QD
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

African
type: Population
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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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65458
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

VQSLOD
type: SiteQuality
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FS
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SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.66286e6

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.052782611350246e-5
allele num: 65514
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13374
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

FS
type: SiteQuality
SIO_000300: 1.4533e1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.895e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.867e0

QD
type: SiteQuality
SIO_000300: 1.368e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13662
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523461304082876e-5
allele num: 65640
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 7.71e0

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 2.6e0

DP
type: SiteQuality
SIO_000300: 2.677384e6

VQSLOD
type: SiteQuality
SIO_000300: -7.887999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.08e-1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -8.455e-1

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

QD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.42e0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65816
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.196e1

VQSLOD
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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DP
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MQRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

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

East Asian
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South Asian
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allele num: 14336
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African
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allele count: 1
allele frequency: 9.763718023823472e-5
allele num: 10242
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Latino
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allele count: 4
allele frequency: 3.465603881476347e-4
allele num: 11542
num of homozygotes: 0

Other
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: 6.071092493094133e-5
allele num: 65886
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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BaseQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 1
allele frequency: 1.138952164009112e-3
allele num: 878
num of homozygotes: 0

Latino
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele count: 14
allele frequency: 1.365054602184087e-3
allele num: 10256
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65992
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South Asian
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BaseQRankSum
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FS
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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DP
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 1.353179972936401e-4
allele num: 14780
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Other
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VQSLOD
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ReadPosRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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QD
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MQ
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DP
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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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variant carriers: 1

European (Non-Finnish)
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allele frequency: 1.512401693889897e-5
allele num: 66120
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 14976
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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DP
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QD
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FS
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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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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East Asian
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allele frequency: 1.157139551029854e-4
allele num: 8642
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European (Non-Finnish)
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allele frequency: 3.024803387779794e-5
allele num: 66120
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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MQRankSum
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VQSLOD
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DP
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FS
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MQ
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ClippingRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11564
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African
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allele frequency: 0.0e0
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.021695775669306e-5
allele num: 66188
num of homozygotes: 0

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

InbreedingCoeff
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ClippingRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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DP
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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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.311537490532694e-5
allele num: 15844
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ReadPosRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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DP
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ClippingRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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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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East Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
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DP
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FS
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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Latino
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East Asian
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allele frequency: 1.15606936416185e-4
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European (Non-Finnish)
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European (Finnish)
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African
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MQ
type: SiteQuality
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DP
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InbreedingCoeff
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VQSLOD
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MQRankSum
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BaseQRankSum
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FS
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QD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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African
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Other
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South Asian
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European (Finnish)
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DP
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MQ
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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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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Latino
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South Asian
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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QD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQRankSum
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MQ
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DP
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049506731836037e-4
allele num: 66698
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.080000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.73927e6

QD
type: SiteQuality
SIO_000300: 1.292e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.237e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.033e0

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.133e0

MQ
type: SiteQuality
SIO_000300: 5.764e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

QD
type: SiteQuality
SIO_000300: 1.522e1

DP
type: SiteQuality
SIO_000300: 2.73935e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.64e-1

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

GenotypeQuality
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GenotypeQuality
all individuals: 7
bin: 4.75e1
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: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.739712e6

FS
type: SiteQuality
SIO_000300: 5.255e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.259e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.197e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.25e-1

GenotypeQuality
all individuals: 10
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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: 1

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

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.265e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.868e0

VQSLOD
type: SiteQuality
SIO_000300: -2.179e-1

DP
type: SiteQuality
SIO_000300: 2.739691e6

MQRankSum
type: SiteQuality
SIO_000300: -1.196e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.676e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.88e-1

GenotypeQuality
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bin: 9.25e1
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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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: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.878e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.774e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.967e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

VQSLOD
type: SiteQuality
SIO_000300: -2.176e0

FS
type: SiteQuality
SIO_000300: 3.047e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.740067e6

QD
type: SiteQuality
SIO_000300: 1.798e1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.701e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-2

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.318e1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.38e-1

GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.159e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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DP
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.55e-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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variant carriers: 27

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 27
allele frequency: 1.635174418604651e-3
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-1

MQ
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.15e-2

BaseQRankSum
type: SiteQuality
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DP
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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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 5.843922320786382e-4
allele num: 66736
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
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African
type: Population
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allele frequency: 0.0e0
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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VQSLOD
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FS
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DP
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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MQ
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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South Asian
type: Population
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498441620714457e-5
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8654
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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 frequency: 0.0e0
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BaseQRankSum
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InbreedingCoeff
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DP
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QD
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MQ
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FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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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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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10406
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

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

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
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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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

InbreedingCoeff
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ReadPosRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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SIO_000300: 2.742382e6

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.93e1

GenotypeQuality
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variant carriers: 0

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

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

South Asian
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allele frequency: 3.028100775193798e-4
allele num: 16512
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Other
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
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DP
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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SIO_000300: 5.08e-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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variant carriers: 0

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

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

South Asian
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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allele frequency: 1.498486528606108e-5
allele num: 66734
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VQSLOD
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InbreedingCoeff
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MQ
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MQRankSum
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ClippingRankSum
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FS
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QD
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ReadPosRankSum
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DP
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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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variant carriers: 0

East Asian
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66728
num of homozygotes: 0

South Asian
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European (Finnish)
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Latino
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Other
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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DP
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InbreedingCoeff
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QD
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BaseQRankSum
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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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variant carriers: 0

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allele num: 66730
num of homozygotes: 0

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

European (Finnish)
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European (Non-Finnish)
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Other
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Latino
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East Asian
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African
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South Asian
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FS
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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DP
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SIO_000300: 2.741888e6

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.62e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2388
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.287e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.363e0

FS
type: SiteQuality
SIO_000300: 2.457e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

DP
type: SiteQuality
SIO_000300: 2.741909e6

VQSLOD
type: SiteQuality
SIO_000300: 2.69e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.998231043684226e-5
allele num: 66706
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.914e0

VQSLOD
type: SiteQuality
SIO_000300: 2.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

MQ
type: SiteQuality
SIO_000300: 5.989e1

MQRankSum
type: SiteQuality
SIO_000300: -1.077e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

DP
type: SiteQuality
SIO_000300: 2.741896e6

QD
type: SiteQuality
SIO_000300: 1.346e1

GenotypeQuality
all individuals: 2300
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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
all individuals: 27
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998590662388677e-5
allele num: 66698
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.741541e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 9.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

QD
type: SiteQuality
SIO_000300: 1.446e1

FS
type: SiteQuality
SIO_000300: 1.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

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

GenotypeQuality
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variant carriers: 2

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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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
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variant carriers: 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: 2
allele frequency: 2.999310158663508e-5
allele num: 66682
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.188e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.47e-2

FS
type: SiteQuality
SIO_000300: 1.106e0

QD
type: SiteQuality
SIO_000300: 1.165e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 2.741184e6

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 16508
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.74067e6

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 1.354e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 8.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.55e-1

GenotypeQuality
all individuals: 1
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1740
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.051051051051051e-4
allele num: 66600
num of homozygotes: 0

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

FS
type: SiteQuality
SIO_000300: 1.791e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e-1

GenotypeQuality
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variant carriers: 2

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66572
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.930874686232864e-4
allele num: 10358
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.591e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.897e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.513e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.48e-2

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

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

South Asian
type: Population
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allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

African
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.96e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 7.724e0

QD
type: SiteQuality
SIO_000300: 9.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

DP
type: SiteQuality
SIO_000300: 2.733237e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503940323647958e-5
allele num: 66492
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.895e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.998e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.22e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 129

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 120
allele frequency: 1.160990712074303e-2
allele num: 10336
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008876184744998e-5
allele num: 66470
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.184033177812338e-4
allele num: 11574
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.742872e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

FS
type: SiteQuality
SIO_000300: 1.176e0

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

QD
type: SiteQuality
SIO_000300: 1.278e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.41e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

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

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

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2387
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1580
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2639
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37744
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1736
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
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: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504890895410083e-5
allele num: 66450
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.03e-1

FS
type: SiteQuality
SIO_000300: 4.212e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.802e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

DP
type: SiteQuality
SIO_000300: 2.733496e6

QD
type: SiteQuality
SIO_000300: 1.184e1

GenotypeQuality
all individuals: 133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8711
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2629
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2267
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37742
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2642
bin: 9.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505208019748329e-5
allele num: 66436
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.732816e6

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.551e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.374e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.926e1

QD
type: SiteQuality
SIO_000300: 2.158e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-1

GenotypeQuality
all individuals: 1548
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2253
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2386
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37741
bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 3
allele frequency: 3.470615455807496e-4
allele num: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66254
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.306e1

DP
type: SiteQuality
SIO_000300: 2.722603e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 5.921e1

FS
type: SiteQuality
SIO_000300: 7.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

GenotypeQuality
all individuals: 920
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6854
bin: 6.25e1
variant carriers: 6

GenotypeQuality
all individuals: 203
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2368
bin: 9.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1372
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1557
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 39935
bin: 9.75e1
variant carriers: 6589

GenotypeQuality
all individuals: 330
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1146
allele frequency: 6.979293544457978e-2
allele num: 16420
num of homozygotes: 53

African
type: Population
allele count: 1124
allele frequency: 1.094023749270002e-1
allele num: 10274
num of homozygotes: 78

Latino
type: Population
allele count: 1289
allele frequency: 1.114280774550484e-1
allele num: 11568
num of homozygotes: 77

European (Non-Finnish)
type: Population
allele count: 1808
allele frequency: 2.730952812518881e-2
allele num: 66204
num of homozygotes: 20

European (Finnish)
type: Population
allele count: 218
allele frequency: 3.296038705775627e-2
allele num: 6614
num of homozygotes: 3

East Asian
type: Population
allele count: 1287
allele frequency: 1.489928224125955e-1
allele num: 8638
num of homozygotes: 75

Other
type: Population
allele count: 59
allele frequency: 6.526548672566372e-2
allele num: 904
num of homozygotes: 4

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

DP
type: SiteQuality
SIO_000300: 3.122015e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.32e0

QD
type: SiteQuality
SIO_000300: 1.54e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.58e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

FS
type: SiteQuality
SIO_000300: 7.14e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

GenotypeQuality
all individuals: 925
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2227
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38503
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 668
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 4.75e1
variant carriers: 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: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517680983457277e-5
allele num: 65890
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.140243153628883e-5
allele num: 16286
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.83e-2

MQ
type: SiteQuality
SIO_000300: 5.888e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.825413e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

QD
type: SiteQuality
SIO_000300: 1.481e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
all individuals: 321
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5425
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2068
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38501
bin: 9.75e1
variant carriers: 3

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.035085589413621e-5
allele num: 65896
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.819324430479184e-5
allele num: 10184
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.06e-1

MQ
type: SiteQuality
SIO_000300: 5.827e1

VQSLOD
type: SiteQuality
SIO_000300: -1.131e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.824621e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.53e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.43e-1

GenotypeQuality
all individuals: 554
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1251
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4648
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2156
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65818
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

DP
type: SiteQuality
SIO_000300: 2.8203e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

QD
type: SiteQuality
SIO_000300: 1.621e1

FS
type: SiteQuality
SIO_000300: 9.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.999e0

MQ
type: SiteQuality
SIO_000300: 5.78e1

VQSLOD
type: SiteQuality
SIO_000300: -1.175e0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2167
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38511
bin: 9.75e1
variant carriers: 21

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518925815663163e-5
allele num: 65836
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.840264998159735e-4
allele num: 16302
num of homozygotes: 0

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

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

African
type: Population
allele count: 18
allele frequency: 1.771653543307087e-3
allele num: 10160
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.367e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

MQ
type: SiteQuality
SIO_000300: 5.747e1

DP
type: SiteQuality
SIO_000300: 2.819703e6

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.898e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.72e-1

GenotypeQuality
all individuals: 2224
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.682e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

DP
type: SiteQuality
SIO_000300: 2.818225e6

QD
type: SiteQuality
SIO_000300: 1.198e1

MQ
type: SiteQuality
SIO_000300: 5.819e1

FS
type: SiteQuality
SIO_000300: 8.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.771e0

GenotypeQuality
all individuals: 149
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1595
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1029
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2231
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1384
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522672594938636e-5
allele num: 65674
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.79e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

FS
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 2.816839e6

VQSLOD
type: SiteQuality
SIO_000300: -1.632e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

QD
type: SiteQuality
SIO_000300: 1.171e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-1

GenotypeQuality
all individuals: 508
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3844
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1595
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.317497103128621e-4
allele num: 8630
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.153088850603002e-5
allele num: 16252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65674
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.816839e6

FS
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

VQSLOD
type: SiteQuality
SIO_000300: -1.632e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.171e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.79e1

GenotypeQuality
all individuals: 1073
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2231
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38510
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2466
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1597
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3874
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2072
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65654
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.152331733727083e-5
allele num: 16254
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

VQSLOD
type: SiteQuality
SIO_000300: 7.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.099e0

MQ
type: SiteQuality
SIO_000300: 5.501e1

DP
type: SiteQuality
SIO_000300: 2.816677e6

FS
type: SiteQuality
SIO_000300: 2.223e0

GenotypeQuality
all individuals: 2466
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38517
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2237
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3949
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1597
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.613594834937264e-5
allele num: 65672
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

DP
type: SiteQuality
SIO_000300: 2.816919e6

VQSLOD
type: SiteQuality
SIO_000300: 6.900000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.616e1

FS
type: SiteQuality
SIO_000300: 3.521e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 1.488e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.72e-1

GenotypeQuality
all individuals: 1934
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39960
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 9.75e1
variant carriers: 11

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.121449559255632e-4
allele num: 16336
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.758101243650377e-5
allele num: 11418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62634
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.414e1

MQ
type: SiteQuality
SIO_000300: 4.778e1

DP
type: SiteQuality
SIO_000300: 1.630582e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1