http://identifiers.org/exac.variant/12-25047173-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047173
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047173
    reference: chr 12
allele count: 1
allele frequency: 9.11843017106175e-6
allele num: 109668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.699+36G>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.315+36G>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.207+36G>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.279+36G>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.207+36G>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.276+36G>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.279+36G>T
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21955
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5985
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2595
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25916
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

12-25047176-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047176
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047176
    reference: chr 12
allele count: 23
allele frequency: 2.088327159148689e-4
allele num: 110136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.279+33C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.207+33C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.276+33C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.207+33C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.315+33C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.699+33C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.279+33C>T
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25548
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7933
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12450
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ

12-25047185-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047185
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047185
    reference: chr 12
allele count: 2
allele frequency: 1.78132459296733e-5
allele num: 112276
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.315+24A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.207+24A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.207+24A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.276+24A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.279+24A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.699+24A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.279+24A>T
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

12-25047188-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047188
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047188
    reference: chr 12
allele count: 1
allele frequency: 8.854415697108148e-6
allele num: 112938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.276+21G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.279+21G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.207+21G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.207+21G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.315+21G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.279+21G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.699+21G>A
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40814
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

12-25047191-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047191
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047191
    reference: chr 12
allele count: 1
allele frequency: 8.781635843124857e-6
allele num: 113874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.207+18A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.279+18A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.699+18A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.279+18A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.276+18A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.315+18A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.207+18A>T
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43405
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3867
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-25047193-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047193
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047193
    reference: chr 12
allele count: 1
allele frequency: 8.732861758798358e-6
allele num: 114510
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.279+16T>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.699+16T>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.207+16T>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.207+16T>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.315+16T>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.279+16T>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.276+16T>G
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10488
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

12-25047194-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047194
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047194
    reference: chr 12
allele count: 2
allele frequency: 1.74188716054974e-5
allele num: 114818
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.279+15A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.699+15A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.279+15A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.207+15A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.276+15A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.207+15A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.315+15A>G
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45412
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

12-25047200-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047200
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047200
    reference: chr 12
allele count: 1
allele frequency: 8.59490494035136e-6
allele num: 116348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.279+9A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.315+9A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.207+9A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.699+9A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.279+9A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.276+9A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.207+9A>G
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39582
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-25047204-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047204
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047204
    reference: chr 12
allele count: 1
allele frequency: 8.540876635577876e-6
allele num: 117084
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.315+5G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.207+5G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.699+5G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.279+5G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.207+5G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.276+5G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.279+5G>A
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3474
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
hgvs: c.315+5G>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-25047208-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047208
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047208
    reference: chr 12
allele count: 3
allele frequency: 2.546992002445112e-5
allele num: 117786
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.315+1G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.276+1G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.207+1G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.279+1G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.207+1G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.279+1G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.699+1G>A
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11941
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3535
  bin: 6.75e1
  variant carriers: 0
hgvs: c.315+1G>A
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

12-25047219-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047219
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047219
    reference: chr 12
allele count: 1
allele frequency: 8.394473078924836e-6
allele num: 119126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.266A>C
  hgvsp: ENSP00000440817.1:p.Tyr89Ser
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.197A>C
  hgvsp: ENSP00000339805.5:p.Tyr66Ser
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.269A>C
  hgvsp: ENSP00000440827.1:p.Tyr90Ser
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.197A>C
  hgvsp: ENSP00000438593.1:p.Tyr66Ser
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.305A>C
  hgvsp: ENSP00000443459.1:p.Tyr102Ser
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.269A>C
  hgvsp: ENSP00000261192.7:p.Tyr90Ser
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.689A>C
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr102Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

12-25047231-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047231
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047231
    reference: chr 12
allele count: 1
allele frequency: 8.357989402069439e-6
allele num: 119646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.257C>G
  hgvsp: ENSP00000440827.1:p.Ser86Ter
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.293C>G
  hgvsp: ENSP00000443459.1:p.Ser98Ter
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.677C>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.185C>G
  hgvsp: ENSP00000438593.1:p.Ser62Ter
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.257C>G
  hgvsp: ENSP00000261192.7:p.Ser86Ter
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.185C>G
  hgvsp: ENSP00000339805.5:p.Ser62Ter
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.254C>G
  hgvsp: ENSP00000440817.1:p.Ser85Ter
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser98Ter
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

12-25047234-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047234
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047234
    reference: chr 12
allele count: 1
allele frequency: 8.35421888053467e-6
allele num: 119700
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.254C>G
  hgvsp: ENSP00000440827.1:p.Ser85Ter
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.251C>G
  hgvsp: ENSP00000440817.1:p.Ser84Ter
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.674C>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.254C>G
  hgvsp: ENSP00000261192.7:p.Ser85Ter
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.182C>G
  hgvsp: ENSP00000339805.5:p.Ser61Ter
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.290C>G
  hgvsp: ENSP00000443459.1:p.Ser97Ter
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.182C>G
  hgvsp: ENSP00000438593.1:p.Ser61Ter
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3779
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser97Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

12-25047251-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047251
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047251
    reference: chr 12
allele count: 2
allele frequency: 1.66858554003771e-5
allele num: 119862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.165G>A
  hgvsp: ENST00000546285.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.237G>A
  hgvsp: ENST00000261192.7:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.234G>A
  hgvsp: ENST00000538118.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.237G>A
  hgvsp: ENST00000539780.1:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.273G>A
  hgvsp: ENST00000539282.1:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.657G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.165G>A
  hgvsp: ENST00000342945.5:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13573
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41292
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu91Leu
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

12-25047260-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047260
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047260
    reference: chr 12
allele count: 3
allele frequency: 2.505888838771112e-5
allele num: 119718
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.225T>C
  hgvsp: ENST00000538118.1:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.156T>C
  hgvsp: ENST00000342945.5:c.156T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.648T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.228T>C
  hgvsp: ENST00000539780.1:c.228T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.264T>C
  hgvsp: ENST00000539282.1:c.264T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.228T>C
  hgvsp: ENST00000261192.7:c.228T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.156T>C
  hgvsp: ENST00000546285.1:c.156T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40955
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 51471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu88Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

12-25047262-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047262
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047262
    reference: chr 12
allele count: 2
allele frequency: 1.670676289762096e-5
allele num: 119712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.223C>T
  hgvsp: ENSP00000440817.1:p.Leu75Phe
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.154C>T
  hgvsp: ENSP00000339805.5:p.Leu52Phe
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.226C>T
  hgvsp: ENSP00000440827.1:p.Leu76Phe
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.154C>T
  hgvsp: ENSP00000438593.1:p.Leu52Phe
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.262C>T
  hgvsp: ENSP00000443459.1:p.Leu88Phe
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.646C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.226C>T
  hgvsp: ENSP00000261192.7:p.Leu76Phe
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu88Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-25047266-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047266
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047266
    reference: chr 12
allele count: 1
allele frequency: 8.35812911637859e-6
allele num: 119644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.222G>A
  hgvsp: ENST00000539780.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.642G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.150G>A
  hgvsp: ENST00000342945.5:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.150G>A
  hgvsp: ENST00000546285.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.258G>A
  hgvsp: ENST00000539282.1:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.219G>A
  hgvsp: ENST00000538118.1:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.222G>A
  hgvsp: ENST00000261192.7:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13740
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys86Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD

12-25047267-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047267
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047267
    reference: chr 12
allele count: 1
allele frequency: 8.358688020328329e-6
allele num: 119636
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.149A>G
  hgvsp: ENSP00000438593.1:p.Lys50Arg
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.221A>G
  hgvsp: ENSP00000261192.7:p.Lys74Arg
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.257A>G
  hgvsp: ENSP00000443459.1:p.Lys86Arg
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.221A>G
  hgvsp: ENSP00000440827.1:p.Lys74Arg
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.641A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.218A>G
  hgvsp: ENSP00000440817.1:p.Lys73Arg
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.149A>G
  hgvsp: ENSP00000339805.5:p.Lys50Arg
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys86Arg
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

12-25047268-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047268
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047268
    reference: chr 12
allele count: 2
allele frequency: 1.672744304305644e-5
allele num: 119564
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.256A>G
  hgvsp: ENSP00000443459.1:p.Lys86Glu
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.217A>G
  hgvsp: ENSP00000440817.1:p.Lys73Glu
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.148A>G
  hgvsp: ENSP00000438593.1:p.Lys50Glu
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.148A>G
  hgvsp: ENSP00000339805.5:p.Lys50Glu
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.220A>G
  hgvsp: ENSP00000261192.7:p.Lys74Glu
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.220A>G
  hgvsp: ENSP00000440827.1:p.Lys74Glu
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.640A>G
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3764
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51155
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys86Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-25047273-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047273
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047273
    reference: chr 12
allele count: 1
allele frequency: 8.375209380234507e-6
allele num: 119400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.215A>T
  hgvsp: ENSP00000440827.1:p.His72Leu
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.143A>T
  hgvsp: ENSP00000339805.5:p.His48Leu
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.212A>T
  hgvsp: ENSP00000440817.1:p.His71Leu
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.635A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.251A>T
  hgvsp: ENSP00000443459.1:p.His84Leu
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.143A>T
  hgvsp: ENSP00000438593.1:p.His48Leu
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.215A>T
  hgvsp: ENSP00000261192.7:p.His72Leu
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His84Leu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-25047273-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047273
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047273
    reference: chr 12
allele count: 1
allele frequency: 8.375209380234507e-6
allele num: 119400
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.251A>G
  hgvsp: ENSP00000443459.1:p.His84Arg
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.635A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.143A>G
  hgvsp: ENSP00000339805.5:p.His48Arg
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.215A>G
  hgvsp: ENSP00000440827.1:p.His72Arg
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.143A>G
  hgvsp: ENSP00000438593.1:p.His48Arg
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.215A>G
  hgvsp: ENSP00000261192.7:p.His72Arg
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.212A>G
  hgvsp: ENSP00000440817.1:p.His71Arg
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51009
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His84Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

12-25047278-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047278
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047278
    reference: chr 12
allele count: 1
allele frequency: 8.391232839928842e-6
allele num: 119172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.210A>G
  hgvsp: ENST00000261192.7:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.138A>G
  hgvsp: ENST00000342945.5:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.246A>G
  hgvsp: ENST00000539282.1:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.138A>G
  hgvsp: ENST00000546285.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.207A>G
  hgvsp: ENST00000538118.1:c.207A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.210A>G
  hgvsp: ENST00000539780.1:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.630A>G
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50670
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3744
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys82Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-25047287-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047287
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047287
    reference: chr 12
allele count: 12
allele frequency: 1.012589867350727e-4
allele num: 118508
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.129A>G
  hgvsp: ENST00000546285.1:c.129A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.237A>G
  hgvsp: ENST00000539282.1:c.237A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.201A>G
  hgvsp: ENST00000539780.1:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.621A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.129A>G
  hgvsp: ENST00000342945.5:c.129A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.201A>G
  hgvsp: ENST00000261192.7:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.198A>G
  hgvsp: ENST00000538118.1:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39359
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly79Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/12-25047288-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047288
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047288
    reference: chr 12
allele count: 2
allele frequency: 1.688818333811832e-5
allele num: 118426
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.200G>T
  hgvsp: ENSP00000261192.7:p.Gly67Val
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.197G>T
  hgvsp: ENSP00000440817.1:p.Gly66Val
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.128G>T
  hgvsp: ENSP00000438593.1:p.Gly43Val
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.128G>T
  hgvsp: ENSP00000339805.5:p.Gly43Val
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.236G>T
  hgvsp: ENSP00000443459.1:p.Gly79Val
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.200G>T
  hgvsp: ENSP00000440827.1:p.Gly67Val
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.620G>T
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13807
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3680
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly79Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

12-25047291-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047291
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047291
    reference: chr 12
allele count: 1
allele frequency: 8.471560969824299e-6
allele num: 118042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.197T>C
  hgvsp: ENSP00000261192.7:p.Phe66Ser
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.125T>C
  hgvsp: ENSP00000339805.5:p.Phe42Ser
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.197T>C
  hgvsp: ENSP00000440827.1:p.Phe66Ser
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.233T>C
  hgvsp: ENSP00000443459.1:p.Phe78Ser
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.194T>C
  hgvsp: ENSP00000440817.1:p.Phe65Ser
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.125T>C
  hgvsp: ENSP00000438593.1:p.Phe42Ser
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.617T>C
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe78Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/12-25047293-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047293
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047293
    reference: chr 12
allele count: 1
allele frequency: 8.486082824168364e-6
allele num: 117840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.123G>T
  hgvsp: ENSP00000339805.5:p.Glu41Asp
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.231G>T
  hgvsp: ENSP00000443459.1:p.Glu77Asp
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.195G>T
  hgvsp: ENSP00000440827.1:p.Glu65Asp
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.123G>T
  hgvsp: ENSP00000438593.1:p.Glu41Asp
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.615G>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.195G>T
  hgvsp: ENSP00000261192.7:p.Glu65Asp
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.192G>T
  hgvsp: ENSP00000440817.1:p.Glu64Asp
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3628
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu77Asp
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

12-25047306-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047306
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047306
    reference: chr 12
allele count: 6
allele frequency: 5.209961446285297e-5
allele num: 115164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.182A>C
  hgvsp: ENSP00000440827.1:p.Glu61Ala
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.218A>C
  hgvsp: ENSP00000443459.1:p.Glu73Ala
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.110A>C
  hgvsp: ENSP00000339805.5:p.Glu37Ala
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.182A>C
  hgvsp: ENSP00000261192.7:p.Glu61Ala
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.602A>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.110A>C
  hgvsp: ENSP00000438593.1:p.Glu37Ala
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.179A>C
  hgvsp: ENSP00000440817.1:p.Glu60Ala
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3431
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46151
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu73Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ

12-25047312-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047312
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047312
    reference: chr 12
allele count: 189
allele frequency: 1.675413091270123e-3
allele num: 112808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.176C>T
  hgvsp: ENSP00000261192.7:p.Thr59Met
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.173C>T
  hgvsp: ENSP00000440817.1:p.Thr58Met
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.104C>T
  hgvsp: ENSP00000438593.1:p.Thr35Met
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.212C>T
  hgvsp: ENSP00000443459.1:p.Thr71Met
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.176C>T
  hgvsp: ENSP00000440827.1:p.Thr59Met
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.596C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.104C>T
  hgvsp: ENSP00000339805.5:p.Thr35Met
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13471
  bin: 2.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 3.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33795
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6334
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr71Met
num of homozygotes: 1
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-25047324-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047324
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047324
    reference: chr 12
allele count: 2
allele frequency: 1.886721255801668e-5
allele num: 106004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.164A>G
  hgvsp: ENSP00000261192.7:p.Asp55Gly
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.92A>G
  hgvsp: ENSP00000339805.5:p.Asp31Gly
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.584A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.164A>G
  hgvsp: ENSP00000440827.1:p.Asp55Gly
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.92A>G
  hgvsp: ENSP00000438593.1:p.Asp31Gly
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.200A>G
  hgvsp: ENSP00000443459.1:p.Asp67Gly
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.161A>G
  hgvsp: ENSP00000440817.1:p.Asp54Gly
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12353
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp67Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

12-25047326-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047326
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047326
    reference: chr 12
allele count: 5
allele frequency: 4.804366208009839e-5
allele num: 104072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.162G>A
  hgvsp: ENST00000539780.1:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.90G>A
  hgvsp: ENST00000342945.5:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.90G>A
  hgvsp: ENST00000546285.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.198G>A
  hgvsp: ENST00000539282.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.159G>A
  hgvsp: ENST00000538118.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.162G>A
  hgvsp: ENST00000261192.7:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.582G>A
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26913
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr66Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

12-25047327-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047327
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047327
    reference: chr 12
allele count: 1
allele frequency: 9.758382450525e-6
allele num: 102476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.581C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.197C>T
  hgvsp: ENSP00000443459.1:p.Thr66Met
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.89C>T
  hgvsp: ENSP00000438593.1:p.Thr30Met
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.161C>T
  hgvsp: ENSP00000440827.1:p.Thr54Met
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.158C>T
  hgvsp: ENSP00000440817.1:p.Thr53Met
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.89C>T
  hgvsp: ENSP00000339805.5:p.Thr30Met
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.161C>T
  hgvsp: ENSP00000261192.7:p.Thr54Met
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25757
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11837
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33798
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr66Met
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-25047332-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047332
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047332
    reference: chr 12
allele count: 1
allele frequency: 1.006238679814852e-5
allele num: 99380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.576G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.156G>A
  hgvsp: ENST00000539780.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.156G>A
  hgvsp: ENST00000261192.7:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.192G>A
  hgvsp: ENST00000539282.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.153G>A
  hgvsp: ENST00000538118.1:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.84G>A
  hgvsp: ENST00000342945.5:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.84G>A
  hgvsp: ENST00000546285.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16900
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val64Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/12-25047345-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047345
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047345
    reference: chr 12
allele count: 1
allele frequency: 1.131119355714415e-5
allele num: 88408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.563T>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.140T>G
  hgvsp: ENSP00000440817.1:p.Val47Gly
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.143T>G
  hgvsp: ENSP00000261192.7:p.Val48Gly
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.71T>G
  hgvsp: ENSP00000339805.5:p.Val24Gly
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.71T>G
  hgvsp: ENSP00000438593.1:p.Val24Gly
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.143T>G
  hgvsp: ENSP00000440827.1:p.Val48Gly
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.179T>G
  hgvsp: ENSP00000443459.1:p.Val60Gly
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17061
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val60Gly
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-25047346-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047346
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047346
    reference: chr 12
allele count: 1
allele frequency: 1.141656772307973e-5
allele num: 87592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.142G>A
  hgvsp: ENSP00000440827.1:p.Val48Ile
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.139G>A
  hgvsp: ENSP00000440817.1:p.Val47Ile
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.70G>A
  hgvsp: ENSP00000438593.1:p.Val24Ile
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.70G>A
  hgvsp: ENSP00000339805.5:p.Val24Ile
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.142G>A
  hgvsp: ENSP00000261192.7:p.Val48Ile
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.562G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.178G>A
  hgvsp: ENSP00000443459.1:p.Val60Ile
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16601
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val60Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

12-25047349-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047349
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047349
    reference: chr 12
allele count: 1
allele frequency: 1.190674636248899e-5
allele num: 83986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.559C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.67C>T
  hgvsp: ENST00000546285.1:c.67C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.136C>T
  hgvsp: ENST00000538118.1:c.136C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.139C>T
  hgvsp: ENST00000539780.1:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.175C>T
  hgvsp: ENST00000539282.1:c.175C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.139C>T
  hgvsp: ENST00000261192.7:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.67C>T
  hgvsp: ENST00000342945.5:c.67C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8113
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu59Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-25047354-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047354
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047354
    reference: chr 12
allele count: 1
allele frequency: 1.245392049417157e-5
allele num: 80296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.134A>G
  hgvsp: ENSP00000440827.1:p.Asn45Ser
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.62A>G
  hgvsp: ENSP00000438593.1:p.Asn21Ser
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.134A>G
  hgvsp: ENSP00000261192.7:p.Asn45Ser
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.554A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.170A>G
  hgvsp: ENSP00000443459.1:p.Asn57Ser
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.131A>G
  hgvsp: ENSP00000440817.1:p.Asn44Ser
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.62A>G
  hgvsp: ENSP00000339805.5:p.Asn21Ser
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18979
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13869
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn57Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

12-25047358-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047358
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047358
    reference: chr 12
allele count: 1
allele frequency: 1.311131506490101e-5
allele num: 76270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.58C>A
  hgvsp: ENSP00000438593.1:p.Pro20Thr
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.550C>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.130C>A
  hgvsp: ENSP00000261192.7:p.Pro44Thr
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.58C>A
  hgvsp: ENSP00000339805.5:p.Pro20Thr
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.130C>A
  hgvsp: ENSP00000440827.1:p.Pro44Thr
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.166C>A
  hgvsp: ENSP00000443459.1:p.Pro56Thr
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.127C>A
  hgvsp: ENSP00000440817.1:p.Pro43Thr
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11240
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30351
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro56Thr
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

12-25047359-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047359
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047359
    reference: chr 12
allele count: 12
allele frequency: 1.589277673297486e-4
allele num: 75506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.57C>A
  hgvsp: ENSP00000339805.5:p.Asp19Glu
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.129C>A
  hgvsp: ENSP00000440827.1:p.Asp43Glu
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.126C>A
  hgvsp: ENSP00000440817.1:p.Asp42Glu
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.165C>A
  hgvsp: ENSP00000443459.1:p.Asp55Glu
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.129C>A
  hgvsp: ENSP00000261192.7:p.Asp43Glu
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.549C>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.57C>A
  hgvsp: ENSP00000438593.1:p.Asp19Glu
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10891
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15835
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp55Glu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP

12-25047367-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047367
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047367
    reference: chr 12
allele count: 1
allele frequency: 1.446842988598877e-5
allele num: 69116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.49A>T
  hgvsp: ENSP00000438593.1:p.Lys17Ter
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.49A>T
  hgvsp: ENSP00000339805.5:p.Lys17Ter
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.121A>T
  hgvsp: ENSP00000440827.1:p.Lys41Ter
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.541A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.121A>T
  hgvsp: ENSP00000261192.7:p.Lys41Ter
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.157A>T
  hgvsp: ENSP00000443459.1:p.Lys53Ter
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.118A>T
  hgvsp: ENSP00000440817.1:p.Lys40Ter
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13047
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys53Ter
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-25047368-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047368
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047368
    reference: chr 12
allele count: 93
allele frequency: 1.356753129285443e-3
allele num: 68546
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.48A>G
  hgvsp: ENST00000546285.1:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.540A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.117A>G
  hgvsp: ENST00000538118.1:c.117A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.156A>G
  hgvsp: ENST00000539282.1:c.156A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.120A>G
  hgvsp: ENST00000539780.1:c.120A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.48A>G
  hgvsp: ENST00000342945.5:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.120A>G
  hgvsp: ENST00000261192.7:c.120A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23282
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 14591
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8755
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32770
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Glu52Glu
num of homozygotes: 1
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-25047376-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047376
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047376
    reference: chr 12
allele count: 2
allele frequency: 3.201946783644456e-5
allele num: 62462
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.40T>G
  hgvsp: ENSP00000339805.5:p.Leu14Val
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.112T>G
  hgvsp: ENSP00000261192.7:p.Leu38Val
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.148T>G
  hgvsp: ENSP00000443459.1:p.Leu50Val
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.112T>G
  hgvsp: ENSP00000440827.1:p.Leu38Val
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.109T>G
  hgvsp: ENSP00000440817.1:p.Leu37Val
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.40T>G
  hgvsp: ENSP00000438593.1:p.Leu14Val
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.532T>G
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24984
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11007
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu50Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-25047382-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047382
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047382
    reference: chr 12
allele count: 1
allele frequency: 1.722474851867163e-5
allele num: 58056
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.106A>G
  hgvsp: ENSP00000261192.7:p.Thr36Ala
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.142A>G
  hgvsp: ENSP00000443459.1:p.Thr48Ala
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.526A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.103A>G
  hgvsp: ENSP00000440817.1:p.Thr35Ala
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.34A>G
  hgvsp: ENSP00000339805.5:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.106A>G
  hgvsp: ENSP00000440827.1:p.Thr36Ala
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.34A>G
  hgvsp: ENSP00000438593.1:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13317
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr48Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

12-25047396-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047396
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047396
    reference: chr 12
allele count: 1
allele frequency: 1.967187315576189e-5
allele num: 50834
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.512T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.128T>C
  hgvsp: ENSP00000443459.1:p.Ile43Thr
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.20T>C
  hgvsp: ENSP00000438593.1:p.Ile7Thr
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.89T>C
  hgvsp: ENSP00000440817.1:p.Ile30Thr
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.92T>C
  hgvsp: ENSP00000440827.1:p.Ile31Thr
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.20T>C
  hgvsp: ENSP00000339805.5:p.Ile7Thr
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.92T>C
  hgvsp: ENSP00000261192.7:p.Ile31Thr
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7844
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8649
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32546
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile43Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

12-25047400-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047400
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047400
    reference: chr 12
allele count: 4
allele frequency: 8.240286761979316e-5
allele num: 48542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.16C>T
  hgvsp: ENST00000342945.5:c.16C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.124C>T
  hgvsp: ENST00000539282.1:c.124C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.88C>T
  hgvsp: ENST00000261192.7:c.88C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.508C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.88C>T
  hgvsp: ENST00000539780.1:c.88C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.85C>T
  hgvsp: ENST00000538118.1:c.85C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.16C>T
  hgvsp: ENST00000546285.1:c.16C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9072
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8182
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu42Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

12-25047408-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047408
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047408
    reference: chr 12
allele count: 3
allele frequency: 6.856829402084476e-5
allele num: 43752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.500C>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.77C>G
  hgvsp: ENSP00000440817.1:p.Ala26Gly
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.8C>G
  hgvsp: ENSP00000438593.1:p.Ala3Gly
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.80C>G
  hgvsp: ENSP00000440827.1:p.Ala27Gly
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.8C>G
  hgvsp: ENSP00000339805.5:p.Ala3Gly
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.116C>G
  hgvsp: ENSP00000443459.1:p.Ala39Gly
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.80C>G
  hgvsp: ENSP00000261192.7:p.Ala27Gly
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10386
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25346
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Ala39Gly
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

12-25047409-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047409
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047409
    reference: chr 12
allele count: 1
allele frequency: 2.295894939847553e-5
allele num: 43556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.76G>A
  hgvsp: ENSP00000440817.1:p.Ala26Thr
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7G>A
  hgvsp: ENSP00000438593.1:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.115G>A
  hgvsp: ENSP00000443459.1:p.Ala39Thr
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.499G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.79G>A
  hgvsp: ENSP00000261192.7:p.Ala27Thr
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.79G>A
  hgvsp: ENSP00000440827.1:p.Ala27Thr
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7G>A
  hgvsp: ENSP00000339805.5:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25385
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10338
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12636
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala39Thr
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

12-25047411-TGGGGAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047411
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047405
    reference: chr 12
allele count: 2
allele frequency: 4.703226413319537e-5
allele num: 42524
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.115-8_115-3delTTCCCC
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-8_7-3delTTCCCC
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.499-8_499-3delTTCCCC
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.76-8_76-3delTTCCCC
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.79-8_79-3delTTCCCC
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-8_7-3delTTCCCC
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.79-8_79-3delTTCCCC
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25016
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10085
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 3.25e1
  variant carriers: 0
hgvs: c.115-8_115-3delTTCCCC
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: TGGGGAA
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-25047415-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047415
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047415
    reference: chr 12
allele count: 1
allele frequency: 2.501876407305479e-5
allele num: 39970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-6C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-6C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.79-6C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.79-6C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.76-6C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.115-6C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.499-6C>T
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6359
  bin: 6.25e1
  variant carriers: 0
hgvs: c.115-6C>T
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

12-25047415-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047415
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047415
    reference: chr 12
allele count: 1
allele frequency: 2.501876407305479e-5
allele num: 39970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.79-6C>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.499-6C>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-6C>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.79-6C>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-6C>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.115-6C>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.76-6C>A
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15272
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
hgvs: c.115-6C>A
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

12-25047418-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047418
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047418
    reference: chr 12
allele count: 2
allele frequency: 5.209418628881017e-5
allele num: 38392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.79-9C>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.115-9C>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.79-9C>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-9C>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-9C>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.76-9C>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.499-9C>A
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9096
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23733
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25960
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-25047422-AATC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047422
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047419
    reference: chr 12
allele count: 2
allele frequency: 5.473453749315818e-5
allele num: 36540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-16_7-14delGAT
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.76-16_76-14delGAT
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.79-16_79-14delGAT
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-16_7-14delGAT
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.115-16_115-14delGAT
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.79-16_79-14delGAT
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.499-16_499-14delGAT
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18487
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8570
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: AATC
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-25047423-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047423
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047423
    reference: chr 12
allele count: 2
allele frequency: 5.52883286338254e-5
allele num: 36174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.79-14T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.76-14T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.79-14T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.115-14T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.499-14T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-14T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-14T>C
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18872
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22341
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8457
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2422
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

12-25047424-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047424
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047424
    reference: chr 12
allele count: 1
allele frequency: 2.812306653917543e-5
allele num: 35558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.499-15A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-15A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.115-15A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-15A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.76-15A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.79-15A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.79-15A>T
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22073
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8351
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19318
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-25047426-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047426
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047426
    reference: chr 12
allele count: 1
allele frequency: 2.879023435250763e-5
allele num: 34734
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.79-17T>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.115-17T>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.499-17T>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.76-17T>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-17T>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.79-17T>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-17T>G
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21546
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20214
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

12-25047426-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047426
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047426
    reference: chr 12
allele count: 1
allele frequency: 2.879023435250763e-5
allele num: 34734
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.76-17T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.499-17T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.79-17T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.79-17T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-17T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-17T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.115-17T>C
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4803
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

12-25047427-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047427
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047427
    reference: chr 12
allele count: 1
allele frequency: 2.884005306569764e-5
allele num: 34674
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.499-18A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.76-18A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-18A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-18A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.115-18A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.79-18A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.79-18A>G
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21535
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20290
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21439
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

12-25047430-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047430
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047430
    reference: chr 12
allele count: 1
allele frequency: 3.035638394754417e-5
allele num: 32942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.499-21G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-21G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.79-21G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-21G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.79-21G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.76-21G>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.115-21G>A
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20872
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21469
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19911
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-25047446-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047446
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047446
    reference: chr 12
allele count: 2
allele frequency: 7.24952878062926e-5
allele num: 27588
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.76-37A>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-37A>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.499-37A>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-37A>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.79-37A>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.79-37A>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.115-37A>C
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24813
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2476
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3601
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24336
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

12-25047448-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047448
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047448
    reference: chr 12
allele count: 2
allele frequency: 7.410701052319549e-5
allele num: 26988
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.115-39G>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-39G>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.76-39G>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.499-39G>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.79-39G>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-39G>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.79-39G>C
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19389
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24832
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5387
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3944
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24224
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6193
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

12-25047454-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047454
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047454
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 25384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.79-45T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.499-45T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.115-45T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.76-45T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.79-45T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-45T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-45T>C
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 24774
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19850
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23024
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5739
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6925
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-25047458-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25047458
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25047458
    reference: chr 12
allele count: 2
allele frequency: 8.266512358435976e-5
allele num: 24194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-49C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-49C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.115-49C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.76-49C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.79-49C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.499-49C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.79-49C>T
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19933
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7534
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21292
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5861
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

12-25054699-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25054699
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25054699
    reference: chr 12
allele count: 1
allele frequency: 9.892762454987931e-6
allele num: 101084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.78+49T>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.498+49T>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.114+49T>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-7290T>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.78+49T>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.75+49T>A
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-7290T>A
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7621
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3460
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3275
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4287
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

12-25054705-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25054705
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25054705
    reference: chr 12
allele count: 9
allele frequency: 8.864898940152082e-5
allele num: 101524
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-7296A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.78+43A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.75+43A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.114+43A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.78+43A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.498+43A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-7296A>G
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10843
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11127
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18808
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8507
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3283
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

12-25054711-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25054711
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25054711
    reference: chr 12
allele count: 1
allele frequency: 9.800654683732874e-6
allele num: 102034
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.498+37C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.114+37C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-7302C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.75+37C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.78+37C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.78+37C>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-7302C>T
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9000
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3289
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

12-25054712-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25054712
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25054712
    reference: chr 12
allele count: 1
allele frequency: 9.752291788570313e-6
allele num: 102540
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.498+36A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-7303A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.114+36A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.78+36A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.75+36A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-7303A>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.78+36A>G
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15936
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2953
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3293
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3947
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8977
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5676
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

12-25054723-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25054723
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25054721
    reference: chr 12
allele count: 20
allele frequency: 1.891646489104116e-4
allele num: 105728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.78+23_78+24delAG
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.75+23_75+24delAG
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-7316_7-7315delAG
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-7316_7-7315delAG
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.78+23_78+24delAG
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.114+23_114+24delAG
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.498+23_498+24delAG
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8984
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29362
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7742
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2756
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: ACT
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/12-25054738-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25054738
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25054738
    reference: chr 12
allele count: 1
allele frequency: 8.867606632969762e-6
allele num: 112770
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.114+10T>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.75+10T>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-7329T>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.78+10T>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-7329T>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.78+10T>G
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.498+10T>G
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38950
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4448
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

12-25054741-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25054741
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25054741
    reference: chr 12
allele count: 5
allele frequency: 4.389584394149562e-5
allele num: 113906
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-7332T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.498+7T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.114+7T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.75+7T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-7332T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.78+7T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.78+7T>C
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8368
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
hgvs: c.114+7T>C
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/12-25054743-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25054743
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25054743
    reference: chr 12
allele count: 2
allele frequency: 1.749230338650994e-5
allele num: 114336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-7334G>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.114+5G>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.498+5G>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.78+5G>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.75+5G>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-7334G>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.78+5G>T
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8505
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4636
  bin: 6.75e1
  variant carriers: 0
hgvs: c.114+5G>T
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

12-25054746-ACCTTAAAAGTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25054746
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25054735
    reference: chr 12
allele count: 1
allele frequency: 8.689909277347145e-6
allele num: 115076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 8.25e1
  variant carriers: 0
hgvs: c.105_114+1delGACTTTTAAGG
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: ACCTTAAAAGTC
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

12-25054749-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25054749
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25054749
    reference: chr 12
allele count: 1
allele frequency: 8.639607416239006e-6
allele num: 115746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.77A>T
  hgvsp: ENSP00000261192.7:p.Lys26Met
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.497A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.113A>T
  hgvsp: ENSP00000443459.1:p.Lys38Met
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.77A>T
  hgvsp: ENSP00000440827.1:p.Lys26Met
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-7340A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-7340A>T
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.74A>T
  hgvsp: ENSP00000440817.1:p.Lys25Met
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys38Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

12-25054754-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25054754
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 25054754
    reference: chr 12
allele count: 12
allele frequency: 1.029406718594517e-4
allele num: 116572
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000443459
  ensembl transcript: ENST00000539282
  gene symbol: BCAT1
  hgvsc: ENST00000539282.1:c.108T>C
  hgvsp: ENST00000539282.1:c.108T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440817
  ensembl transcript: ENST00000538118
  gene symbol: BCAT1
  hgvsc: ENST00000538118.1:c.69T>C
  hgvsp: ENST00000538118.1:c.69T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000339805
  ensembl transcript: ENST00000342945
  gene symbol: BCAT1
  hgvsc: ENST00000342945.5:c.7-7345T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000261192
  ensembl transcript: ENST00000261192
  gene symbol: BCAT1
  hgvsc: ENST00000261192.7:c.72T>C
  hgvsp: ENST00000261192.7:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000440827
  ensembl transcript: ENST00000539780
  gene symbol: BCAT1
  hgvsc: ENST00000539780.1:c.72T>C
  hgvsp: ENST00000539780.1:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060982
  ensembl protein: ENSP00000438593
  ensembl transcript: ENST00000546285
  gene symbol: BCAT1
  hgvsc: ENST00000546285.1:c.7-7345T>C
  variant of: http://identifiers.org/hgnc/976
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000060982
  ensembl transcript: ENST00000544418
  gene symbol: BCAT1
  hgvsc: ENST00000544418.1:n.492T>C
  variant of: http://identifiers.org/hgnc/976
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39980
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9248
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr36Thr
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 533
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2395
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5965
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3316
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10058
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.637572462581469e-5
allele num: 61066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.604e-1

MQ
type: SiteQuality
SIO_000300: 5.607e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 1.651e1

DP
type: SiteQuality
SIO_000300: 1.182109e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.212e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

GenotypeQuality
all individuals: 5577
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5800
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4834
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3067
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30249
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 9.75e1
variant carriers: 24

GenotypeQuality
all individuals: 311
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.632066849458154e-5
allele num: 61272
num of homozygotes: 0

South Asian
type: Population
allele count: 20
allele frequency: 1.349709812390336e-3
allele num: 14818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

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

Other
type: Population
allele count: 2
allele frequency: 2.457002457002457e-3
allele num: 814
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

DP
type: SiteQuality
SIO_000300: 1.212778e6

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 3.203e0

QD
type: SiteQuality
SIO_000300: 1.216e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.353e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 711
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38451
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4788
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62460
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.224694104560623e-4
allele num: 8990
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15064
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.584e0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

QD
type: SiteQuality
SIO_000300: 1.05e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.298724e6

GenotypeQuality
all individuals: 92
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1758
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2680
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1744
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.608511763150938e-5
allele num: 15132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.501e0

MQRankSum
type: SiteQuality
SIO_000300: 9.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.905e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.88e1

DP
type: SiteQuality
SIO_000300: 1.324585e6

QD
type: SiteQuality
SIO_000300: 1.643e1

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3149
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9114
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63346
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.559097468188377e-5
allele num: 15246
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.242e0

QD
type: SiteQuality
SIO_000300: 1.104e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.268e0

VQSLOD
type: SiteQuality
SIO_000300: -3.294e-1

DP
type: SiteQuality
SIO_000300: 1.34631e6

FS
type: SiteQuality
SIO_000300: 6.953e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.13e-1

GenotypeQuality
all individuals: 3479
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1363
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 718
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3190
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.091464745688714e-4
allele num: 9162
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15332
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.361039e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

QD
type: SiteQuality
SIO_000300: 1.279e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

GenotypeQuality
all individuals: 140
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1363
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 175
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.132439543916802e-5
allele num: 63848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

QD
type: SiteQuality
SIO_000300: 1.316e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.367278e6

GenotypeQuality
all individuals: 2536
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15584
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9292
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.173708920187793e-3
allele num: 852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64708
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10936
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

QD
type: SiteQuality
SIO_000300: 1.544e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 1.398958e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.21e-1

GenotypeQuality
all individuals: 764
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48380
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 4.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.04649900488511e-5
allele num: 11054
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15706
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.611e1

VQSLOD
type: SiteQuality
SIO_000300: -1.398e0

QD
type: SiteQuality
SIO_000300: 1.21e1

FS
type: SiteQuality
SIO_000300: 3.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.324e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.4137e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-1

GenotypeQuality
all individuals: 566
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1636
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49596
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11160
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.587576841912102e-5
allele num: 65394
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9426
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-2

QD
type: SiteQuality
SIO_000300: 1.143e1

FS
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: -1.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.426065e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.522e0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3698
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 953
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.225874735400324e-5
allele num: 16062
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66104
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.44539e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.399e1

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.295e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
all individuals: 154
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 740
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3768
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51433
bin: 6.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16170
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.33e-1

DP
type: SiteQuality
SIO_000300: 1.454768e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.22e-1

QD
type: SiteQuality
SIO_000300: 7.52e0

MQRankSum
type: SiteQuality
SIO_000300: -9.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-2

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51550
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16186
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506704836522525e-5
allele num: 66370
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.392e0

DP
type: SiteQuality
SIO_000300: 1.455804e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.456e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.468e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQ
type: SiteQuality
SIO_000300: 5.911e1

QD
type: SiteQuality
SIO_000300: 1.68e1

GenotypeQuality
all individuals: 580
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 95
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51732
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3799
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16240
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011050555538827e-5
allele num: 66422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.01e-1

QD
type: SiteQuality
SIO_000300: 9.33e0

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

FS
type: SiteQuality
SIO_000300: 1.126e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 1.46098e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 113
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3784
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.852537977028529e-4
allele num: 16194
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: 7.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.139e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

DP
type: SiteQuality
SIO_000300: 1.45982e6

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1366
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 96
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51492
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66374
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.325040688212044e-4
allele num: 8602
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

FS
type: SiteQuality
SIO_000300: 1.453e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.763e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.008e1

MQ
type: SiteQuality
SIO_000300: 5.926e1

DP
type: SiteQuality
SIO_000300: 1.459887e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51356
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16186
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.793527963418924e-5
allele num: 11372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66336
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e0

DP
type: SiteQuality
SIO_000300: 1.459017e6

VQSLOD
type: SiteQuality
SIO_000300: -1.05e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 3.845e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

QD
type: SiteQuality
SIO_000300: 1.098e1

GenotypeQuality
all individuals: 51363
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3772
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16182
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.795074758135444e-5
allele num: 11370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66336
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.78e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 7.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.32e1

DP
type: SiteQuality
SIO_000300: 1.458377e6

GenotypeQuality
all individuals: 125
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508250128201261e-5
allele num: 66302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.186587478346944e-5
allele num: 16164
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.457552e6

VQSLOD
type: SiteQuality
SIO_000300: 5.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.92e-1

FS
type: SiteQuality
SIO_000300: 1.124e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.136e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.51e-1

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51009
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9632
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.210408644888833e-5
allele num: 16102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66250
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.471e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

DP
type: SiteQuality
SIO_000300: 1.455564e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 1.168e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-1

GenotypeQuality
all individuals: 139
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3767
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 351
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66250
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9632
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.210408644888833e-5
allele num: 16102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.74e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.38e-1

DP
type: SiteQuality
SIO_000300: 1.455564e6

FS
type: SiteQuality
SIO_000300: 1.471e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-1

QD
type: SiteQuality
SIO_000300: 1.168e1

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

GenotypeQuality
all individuals: 157
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1216
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66156
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.230529595015576e-5
allele num: 16050
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.578e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

VQSLOD
type: SiteQuality
SIO_000300: 7.56e-1

DP
type: SiteQuality
SIO_000300: 1.45291e6

QD
type: SiteQuality
SIO_000300: 1.07e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.18e-1

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

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3693
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1743
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 9.75e1
variant carriers: 12

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.256439251162206e-4
allele num: 15918
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

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

African
type: Population
allele count: 9
allele frequency: 9.437919463087249e-4
allele num: 9536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65824
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.901548869503294e-5
allele num: 11234
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

QD
type: SiteQuality
SIO_000300: 1.272e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.56e0

DP
type: SiteQuality
SIO_000300: 1.446251e6

GenotypeQuality
all individuals: 688
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1801
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49797
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65782
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11220
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.25675505843911e-4
allele num: 15914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.74e0

DP
type: SiteQuality
SIO_000300: 1.445276e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.74e0

VQSLOD
type: SiteQuality
SIO_000300: 1.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.182e1

GenotypeQuality
all individuals: 1360
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 335
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3667
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2182
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49246
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.525320317266626e-4
allele num: 6556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15816
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

FS
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.439006e6

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.53e-1

QD
type: SiteQuality
SIO_000300: 9.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.046e0

GenotypeQuality
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2350
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48952
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1360
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9486
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.968609865470852e-5
allele num: 11150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15784
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.821e0

QD
type: SiteQuality
SIO_000300: 1.028e1

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.405e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.436471e6

GenotypeQuality
all individuals: 375
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 9.75e1
variant carriers: 6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.223693715386468e-4
allele num: 8306
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10798
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15378
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e-1

FS
type: SiteQuality
SIO_000300: 7.834e0

QD
type: SiteQuality
SIO_000300: 1.428e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-2

DP
type: SiteQuality
SIO_000300: 1.404543e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
all individuals: 694
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43554
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 9.75e1
variant carriers: 185

GenotypeQuality
all individuals: 3188
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.182033096926714e-3
allele num: 846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.561524047470331e-4
allele num: 6404
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.990181769934987e-4
allele num: 15074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 151
allele frequency: 2.409061901723037e-3
allele num: 62680
num of homozygotes: 0

African
type: Population
allele count: 19
allele frequency: 2.069716775599128e-3
allele num: 9180
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 1.336898395721925e-3
allele num: 10472
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.83e-1

DP
type: SiteQuality
SIO_000300: 1.382853e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

QD
type: SiteQuality
SIO_000300: 1.373e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.002e0

VQSLOD
type: SiteQuality
SIO_000300: 5.08e0

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 699
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11902
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1339
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2907
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.701085292416562e-5
allele num: 58786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7638
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.943480072212192e-5
allele num: 14402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.62e-1

DP
type: SiteQuality
SIO_000300: 1.291561e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

GenotypeQuality
all individuals: 1177
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2787
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 35602
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.672726011239852e-5
allele num: 57652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6020
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.082e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

QD
type: SiteQuality
SIO_000300: 1.527e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.271176e6

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

GenotypeQuality
all individuals: 1337
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1007
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 14423
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8998
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.288659793814433e-3
allele num: 776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5940
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.1218e1

MQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.3e0

DP
type: SiteQuality
SIO_000300: 1.25309e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

QD
type: SiteQuality
SIO_000300: 1.074e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

GenotypeQuality
all individuals: 139
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31842
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2475
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1342
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13818
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.820830298616169e-5
allele num: 54920
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7200
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 1.212682e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.858e0

QD
type: SiteQuality
SIO_000300: 1.216e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-2

GenotypeQuality
all individuals: 150
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23479
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24497
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.885369532428356e-4
allele num: 5304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48462
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

DP
type: SiteQuality
SIO_000300: 1.085093e6

VQSLOD
type: SiteQuality
SIO_000300: -8.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

QD
type: SiteQuality
SIO_000300: 1.773e1

FS
type: SiteQuality
SIO_000300: 4.873e0

MQRankSum
type: SiteQuality
SIO_000300: -1.073e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

GenotypeQuality
all individuals: 502
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25032
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2077
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1712
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47980
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7634
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.779679477205539e-5
allele num: 12854
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.098e0

DP
type: SiteQuality
SIO_000300: 1.076252e6

QD
type: SiteQuality
SIO_000300: 7.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.279e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.116e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.88e-1

GenotypeQuality
all individuals: 276
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27046
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20111
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.181691247054717e-5
allele num: 45836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7374
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.036137e6

MQRankSum
type: SiteQuality
SIO_000300: -1.258e0

FS
type: SiteQuality
SIO_000300: 1.792e0

QD
type: SiteQuality
SIO_000300: 8.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.653e0

MQ
type: SiteQuality
SIO_000300: 5.718e1

VQSLOD
type: SiteQuality
SIO_000300: -8.941e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.456e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 469
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28907
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1905
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.290006412017954e-5
allele num: 43668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6074
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12258
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 2.027e0

QD
type: SiteQuality
SIO_000300: 7.4e0

MQRankSum
type: SiteQuality
SIO_000300: 2.13e0

DP
type: SiteQuality
SIO_000300: 9.96582e5

VQSLOD
type: SiteQuality
SIO_000300: -3.207e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.39e-1

MQ
type: SiteQuality
SIO_000300: 5.728e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.485e0

GenotypeQuality
all individuals: 347
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16146
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1971
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1735
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1335
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 271
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.418379685610641e-5
allele num: 41350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4704
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

FS
type: SiteQuality
SIO_000300: 2.793e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 7.03e0

VQSLOD
type: SiteQuality
SIO_000300: -5.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

DP
type: SiteQuality
SIO_000300: 9.61249e5

GenotypeQuality
all individuals: 270
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30811
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 504
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4666
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 2.104055087987758e-3
allele num: 5228
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.666666666666667e-3
allele num: 600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40880
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.967e0

QD
type: SiteQuality
SIO_000300: 1.268e1

FS
type: SiteQuality
SIO_000300: 2.818e0

DP
type: SiteQuality
SIO_000300: 9.52425e5

GenotypeQuality
all individuals: 124
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1586
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1856
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.70138851369604e-5
allele num: 37018
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.744e0

MQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

DP
type: SiteQuality
SIO_000300: 8.92413e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

FS
type: SiteQuality
SIO_000300: 1.9362e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.855e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.46e-1

QD
type: SiteQuality
SIO_000300: 1.48e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

GenotypeQuality
all individuals: 929
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 9.75e1
variant carriers: 90

GenotypeQuality
all individuals: 12848
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 368
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 537
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 162
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 426
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1569
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4646
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.798561151079137e-3
allele num: 556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4314
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 4.15973377703827e-4
allele num: 4808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36696
num of homozygotes: 0

South Asian
type: Population
allele count: 90
allele frequency: 8.015675097969362e-3
allele num: 11228
num of homozygotes: 1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.466e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 6.909999999999999e-1

DP
type: SiteQuality
SIO_000300: 8.88951e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

GenotypeQuality
all individuals: 150
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1706
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3993
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33433
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 274
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3994
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.453038674033149e-4
allele num: 5792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33154
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.378e0

DP
type: SiteQuality
SIO_000300: 8.38427e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.353e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

QD
type: SiteQuality
SIO_000300: 1.864e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

GenotypeQuality
all individuals: 33086
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1801
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1605
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10006
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1861
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.264559937320449e-5
allele num: 30632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3790
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.668e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

QD
type: SiteQuality
SIO_000300: 6.88e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.07693e5

GenotypeQuality
all individuals: 248
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8022
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1916
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 162
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3212
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.083333333333333e-4
allele num: 4800
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.66e-2

QD
type: SiteQuality
SIO_000300: 1.469e1

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 7.5269e5

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

GenotypeQuality
all individuals: 179
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9245
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31852
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 4
allele frequency: 1.312335958005249e-3
allele num: 3048
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9506
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.89e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

DP
type: SiteQuality
SIO_000300: 7.35057e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

QD
type: SiteQuality
SIO_000300: 1.382e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.678e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 1463
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6986
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 29470
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12570
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 245
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1993
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 429
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1325
bin: 9.75e1
variant carriers: 2

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4170
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2068
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 8.958165367732689e-5
allele num: 22326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.280839895013123e-4
allele num: 3048
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

QD
type: SiteQuality
SIO_000300: 1.127e1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 6.90296e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 29873
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7041
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1066
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1065
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1419
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 241
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2064
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22180
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.748125937031484e-4
allele num: 2668
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3038
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.866e1

QD
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

DP
type: SiteQuality
SIO_000300: 6.90012e5

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.08e-2

FS
type: SiteQuality
SIO_000300: 6.142e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.028e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
all individuals: 240
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 29275
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 472
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13528
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1425
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 339
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6868
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 9.271277582050807e-5
allele num: 21572
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1952
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9002
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2980
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.734e0

FS
type: SiteQuality
SIO_000300: 2.542e0

VQSLOD
type: SiteQuality
SIO_000300: -8.173e-1

MQ
type: SiteQuality
SIO_000300: 5.739e1

DP
type: SiteQuality
SIO_000300: 6.78425e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.53e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

QD
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

GenotypeQuality
all individuals: 1321
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27570
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15272
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 346
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1781
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1360
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2364
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2846
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.140771161305042e-4
allele num: 8766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20018
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.898e0

VQSLOD
type: SiteQuality
SIO_000300: -6.139e-1

DP
type: SiteQuality
SIO_000300: 6.55078e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

QD
type: SiteQuality
SIO_000300: 1.235e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.36e-2

FS
type: SiteQuality
SIO_000300: 7.944e0

MQRankSum
type: SiteQuality
SIO_000300: -6.06e-1

GenotypeQuality
all individuals: 1360
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27570
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 977
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6359
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2364
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2846
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.140771161305042e-4
allele num: 8766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20018
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3902
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.36e-2

FS
type: SiteQuality
SIO_000300: 7.944e0

QD
type: SiteQuality
SIO_000300: 1.235e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.898e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.139e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

DP
type: SiteQuality
SIO_000300: 6.55078e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

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

GenotypeQuality
all individuals: 1898
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16504
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 974
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.047668936616029e-4
allele num: 19090
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.542e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.735e0

MQRankSum
type: SiteQuality
SIO_000300: -1.739e0

VQSLOD
type: SiteQuality
SIO_000300: -4.027e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.174e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.11e-2

MQ
type: SiteQuality
SIO_000300: 5.787e1

DP
type: SiteQuality
SIO_000300: 6.39734e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

QD
type: SiteQuality
SIO_000300: 2.38e0

GenotypeQuality
all individuals: 18552
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2241
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.863813229571985e-4
allele num: 2056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.575379125780553e-5
allele num: 17936
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2670
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.71e0

MQ
type: SiteQuality
SIO_000300: 5.435e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

DP
type: SiteQuality
SIO_000300: 6.14708e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.35e-2

QD
type: SiteQuality
SIO_000300: 1.913e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

GenotypeQuality
all individuals: 23093
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2286
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18903
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 340
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1321
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.127777151234916e-4
allele num: 17734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2020
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2656
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.788e0

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.531e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.14e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

DP
type: SiteQuality
SIO_000300: 6.09935e5

QD
type: SiteQuality
SIO_000300: 7.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.42e-2

GenotypeQuality
all individuals: 2536
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 22351
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2628
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 7.898894154818325e-4
allele num: 1266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.489e1

DP
type: SiteQuality
SIO_000300: 6.05103e5

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 7.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.761e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.51e-2

GenotypeQuality
all individuals: 21178
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1187
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2776
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 156
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4803
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.90876861262113e-5
allele num: 16924
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.99e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

QD
type: SiteQuality
SIO_000300: 1.009e1

DP
type: SiteQuality
SIO_000300: 5.93624e5

GenotypeQuality
all individuals: 2776
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20214
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1473
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21178
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3486
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.230125523012552e-4
allele num: 1912
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2566
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

DP
type: SiteQuality
SIO_000300: 5.93624e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.009e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.99e-2

GenotypeQuality
all individuals: 156
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4857
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1321
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.924170616113744e-5
allele num: 16880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1904
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.65e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.93147e5

VQSLOD
type: SiteQuality
SIO_000300: -2.503e0

QD
type: SiteQuality
SIO_000300: 2.1e0

GenotypeQuality
all individuals: 1085
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4479
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1748
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1012
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.289308176100629e-5
allele num: 15900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.92e-2

DP
type: SiteQuality
SIO_000300: 5.77493e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.157e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.088e0

VQSLOD
type: SiteQuality
SIO_000300: -5.44e-1

GenotypeQuality
all individuals: 1119
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5828
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11424
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.620545073375262e-4
allele num: 7632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2814
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1184
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.437e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.06857e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

VQSLOD
type: SiteQuality
SIO_000300: -7.22e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.73e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

GenotypeQuality
all individuals: 151
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10446
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2068
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 241
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2776
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.105590062111801e-3
allele num: 644
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7502
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 5.011e0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.335e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

VQSLOD
type: SiteQuality
SIO_000300: -5.317e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.78e-2

DP
type: SiteQuality
SIO_000300: 4.99607e5

GenotypeQuality
all individuals: 4056
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7572
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1391
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.88392e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.06e-2

QD
type: SiteQuality
SIO_000300: 5.53e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -2.191e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
all individuals: 204
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1365
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7097
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 4.965243296921549e-4
allele num: 2014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.427347987439338e-4
allele num: 7006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 918
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10970
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 4.8484e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.157e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

GenotypeQuality
all individuals: 5712
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1922
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2310
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7786
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.787757437070938e-5
allele num: 55936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6034
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.078647e6

MQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

QD
type: SiteQuality
SIO_000300: 5.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.133e0

FS
type: SiteQuality
SIO_000300: 4.771e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.137e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

GenotypeQuality
all individuals: 801
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7977
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 498
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4246
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2467
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4564
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7608
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.392757660167131e-4
allele num: 7180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6064
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 8.437038599451593e-4
allele num: 9482
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.14e1

MQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

DP
type: SiteQuality
SIO_000300: 1.100579e6

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-1

GenotypeQuality
all individuals: 2860
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17603
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6050
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.77072635194957e-5
allele num: 56474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6060
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

DP
type: SiteQuality
SIO_000300: 1.155695e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.548e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

QD
type: SiteQuality
SIO_000300: 1.88e1

GenotypeQuality
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1056
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7054
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18837
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1820
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.761555806087937e-5
allele num: 56768
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 6.14e0

DP
type: SiteQuality
SIO_000300: 1.165487e6

VQSLOD
type: SiteQuality
SIO_000300: -1.038e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3337
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 166
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4034
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3633
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29230
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2424
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

African
type: Population
allele count: 19
allele frequency: 2.204176334106728e-3
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.002204850671477e-4
allele num: 9978
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58576
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.46e-1

QD
type: SiteQuality
SIO_000300: 1.836e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

FS
type: SiteQuality
SIO_000300: 1.523e0

MQ
type: SiteQuality
SIO_000300: 6.01e1

DP
type: SiteQuality
SIO_000300: 1.27799e6

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4259
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3345
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1688
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.597801425238871e-5
allele num: 62586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8218
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 2.713e0

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.406011e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

GenotypeQuality
all individuals: 3703
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4607
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3351
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39198
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.437146585471945e-4
allele num: 9196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63238
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.933e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.981e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.379e0

FS
type: SiteQuality
SIO_000300: 2.0473e1

MQRankSum
type: SiteQuality
SIO_000300: -4.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

QD
type: SiteQuality
SIO_000300: 1.167e1

DP
type: SiteQuality
SIO_000300: 1.421819e6

GenotypeQuality
all individuals: 1728
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 444
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40010
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1527
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3348
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 595
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.638343069569835e-5
allele num: 15064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.082251082251082e-4
allele num: 9240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63482
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.475e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

QD
type: SiteQuality
SIO_000300: 8.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.096e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.32e-1

MQ
type: SiteQuality
SIO_000300: 5.767e1

VQSLOD
type: SiteQuality
SIO_000300: -8.945e-1

DP
type: SiteQuality
SIO_000300: 1.429302e6

GenotypeQuality
all individuals: 592
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3116
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1541
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40651
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4710
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.075731497418244e-4
allele num: 9296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63876
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.333e-1

FS
type: SiteQuality
SIO_000300: 1.639e0

MQ
type: SiteQuality
SIO_000300: 5.468e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.739e0

DP
type: SiteQuality
SIO_000300: 1.438996e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

GenotypeQuality
all individuals: 4782
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1566
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1753
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41329
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3351
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556565593674117e-5
allele num: 64244
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11118
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15276
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.389e1

MQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.038e-1

FS
type: SiteQuality
SIO_000300: 8.407999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e0

DP
type: SiteQuality
SIO_000300: 1.449029e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.461e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.828e0