12-7053312-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053312
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053312
    reference: chr 12
allele count: 3
allele frequency: 2.472432378974435e-5
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.28G>A
  hgvsp: ENSP00000229281.5:p.Ala10Thr
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.28G>A
  hgvsp: ENSP00000440602.1:p.Ala10Thr
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-174G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.456C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.28G>A
  hgvsp: ENSP00000475422.1:p.Ala10Thr
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.28G>A
  hgvsp: ENSP00000440937.1:p.Ala10Thr
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-327G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-327G>A
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37077
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala10Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-7053314-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053314
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053314
    reference: chr 12
allele count: 110
allele frequency: 9.065734819014967e-4
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.30C>T
  hgvsp: ENST00000545581.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-325C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.30C>T
  hgvsp: ENST00000229281.5:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.30C>T
  hgvsp: ENST00000537087.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-172C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-325C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.30C>T
  hgvsp: ENST00000544681.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.454G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37085
  bin: 9.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala10Ala
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-7053315-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053315
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053315
    reference: chr 12
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.31T>G
  hgvsp: ENSP00000440602.1:p.Leu11Val
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.31T>G
  hgvsp: ENSP00000475422.1:p.Leu11Val
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-171T>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.31T>G
  hgvsp: ENSP00000229281.5:p.Leu11Val
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.31T>G
  hgvsp: ENSP00000440937.1:p.Leu11Val
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-324T>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.453A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-324T>G
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37054
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56923
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu11Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-7053317-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053317
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053317
    reference: chr 12
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-169G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-322G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.33G>A
  hgvsp: ENST00000537087.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.451C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-322G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.33G>A
  hgvsp: ENST00000229281.5:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.33G>A
  hgvsp: ENST00000545581.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.33G>A
  hgvsp: ENST00000544681.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37055
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56923
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu11Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-7053317-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053317
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053317
    reference: chr 12
allele count: 4
allele frequency: 3.296522169111587e-5
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.33G>C
  hgvsp: ENSP00000229281.5:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-322G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-169G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.33G>C
  hgvsp: ENSP00000475422.1:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.33G>C
  hgvsp: ENSP00000440602.1:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.33G>C
  hgvsp: ENSP00000440937.1:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-322G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.451C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37055
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56923
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Leu11Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

12-7053319-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053319
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053319
    reference: chr 12
allele count: 8
allele frequency: 6.593153010598494e-5
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.35G>A
  hgvsp: ENSP00000440602.1:p.Ser12Asn
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.449C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.35G>A
  hgvsp: ENSP00000475422.1:p.Ser12Asn
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-167G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.35G>A
  hgvsp: ENSP00000440937.1:p.Ser12Asn
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-320G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.35G>A
  hgvsp: ENSP00000229281.5:p.Ser12Asn
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-320G>A
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37054
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser12Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-7053319-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053319
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053319
    reference: chr 12
allele count: 6
allele frequency: 4.94486475794887e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.35G>T
  hgvsp: ENSP00000440602.1:p.Ser12Ile
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.35G>T
  hgvsp: ENSP00000475422.1:p.Ser12Ile
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-320G>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.35G>T
  hgvsp: ENSP00000229281.5:p.Ser12Ile
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-320G>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-167G>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.35G>T
  hgvsp: ENSP00000440937.1:p.Ser12Ile
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.449C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37054
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56924
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Ser12Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

12-7053320-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053320
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053320
    reference: chr 12
allele count: 2
allele frequency: 1.648233917357551e-5
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.36C>T
  hgvsp: ENST00000544681.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.36C>T
  hgvsp: ENST00000545581.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.36C>T
  hgvsp: ENST00000229281.5:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-166C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.448G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.36C>T
  hgvsp: ENST00000537087.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-319C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-319C>T
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37046
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56923
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser12Ser
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

12-7053321-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053321
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053321
    reference: chr 12
allele count: 6
allele frequency: 4.944783253667381e-5
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-318G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.37G>A
  hgvsp: ENSP00000229281.5:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.37G>A
  hgvsp: ENSP00000440602.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.37G>A
  hgvsp: ENSP00000440937.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.37G>A
  hgvsp: ENSP00000475422.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.447C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-318G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-165G>A
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37046
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala13Thr
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

12-7053324-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053324
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053325
    reference: chr 12
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.41dupA
  hgvsp: ENSP00000440602.1:p.Gln15AlafsTer28
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.41dupA
  hgvsp: ENSP00000440937.1:p.Gln15AlafsTer28
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-314dupA
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-314dupA
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.41dupA
  hgvsp: ENSP00000475422.1:p.Gln15AlafsTer28
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.41dupA
  hgvsp: ENSP00000229281.5:p.Gln15AlafsTer28
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.443dupT
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-161dupA
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37043
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln15AlafsTer28
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

12-7053326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053326
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053326
    reference: chr 12
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.42G>A
  hgvsp: ENST00000229281.5:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.42G>A
  hgvsp: ENST00000545581.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-160G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-313G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.42G>A
  hgvsp: ENST00000537087.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.42G>A
  hgvsp: ENST00000544681.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-313G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.442C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37043
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu14Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

12-7053330-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053330
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053330
    reference: chr 12
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.46G>T
  hgvsp: ENSP00000475422.1:p.Ala16Ser
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-156G>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-309G>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.46G>T
  hgvsp: ENSP00000440602.1:p.Ala16Ser
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-309G>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.46G>T
  hgvsp: ENSP00000440937.1:p.Ala16Ser
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.438C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.46G>T
  hgvsp: ENSP00000229281.5:p.Ala16Ser
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37043
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56922
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala16Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

12-7053331-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053331
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053331
    reference: chr 12
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.47C>G
  hgvsp: ENSP00000440937.1:p.Ala16Gly
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-308C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-308C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.47C>G
  hgvsp: ENSP00000440602.1:p.Ala16Gly
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.47C>G
  hgvsp: ENSP00000475422.1:p.Ala16Gly
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-155C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.47C>G
  hgvsp: ENSP00000229281.5:p.Ala16Gly
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.437G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37043
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala16Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

12-7053332-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053332
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053332
    reference: chr 12
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.48A>G
  hgvsp: ENST00000229281.5:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-307A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-154A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-307A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.48A>G
  hgvsp: ENST00000545581.1:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.436T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.48A>G
  hgvsp: ENST00000537087.1:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.48A>G
  hgvsp: ENST00000544681.1:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37042
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56921
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala16Ala
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD

12-7053332-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053332
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053332
    reference: chr 12
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-307A>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.48A>T
  hgvsp: ENST00000544681.1:c.48A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.436T>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.48A>T
  hgvsp: ENST00000537087.1:c.48A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.48A>T
  hgvsp: ENST00000545581.1:c.48A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.48A>T
  hgvsp: ENST00000229281.5:c.48A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-307A>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-154A>T
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37042
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala16Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

12-7053335-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053335
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053335
    reference: chr 12
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.51G>A
  hgvsp: ENST00000229281.5:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-304G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.51G>A
  hgvsp: ENST00000545581.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-304G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.51G>A
  hgvsp: ENST00000544681.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.51G>A
  hgvsp: ENST00000537087.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-151G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.433C>T
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37040
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
hgvs: c.51G>A
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-7053336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053336
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053336
    reference: chr 12
allele count: 9
allele frequency: 7.417297136923305e-5
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-303G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52G>A
  hgvsp: ENSP00000440602.1:p.Val18Met
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.432C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52G>A
  hgvsp: ENSP00000475422.1:p.Val18Met
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-303G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52G>A
  hgvsp: ENSP00000440937.1:p.Val18Met
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52G>A
  hgvsp: ENSP00000229281.5:p.Val18Met
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37039
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val18Met
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

12-7053337-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053337
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053337
    reference: chr 12
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.431C>T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+1G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+1G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+1G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-302G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-302G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+1G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+1G>A
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37037
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 6.75e1
  variant carriers: 0
hgvs: c.52+1G>A
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

12-7053340-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053340
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053340
    reference: chr 12
allele count: 2
allele frequency: 1.64836976230508e-5
allele num: 121332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+4A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+4A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.428T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-299A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+4A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+4A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-299A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+4A>G
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37037
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
hgvs: c.52+4A>G
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

12-7053346-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053346
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053346
    reference: chr 12
allele count: 2
allele frequency: 1.648152421135907e-5
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+10G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-293G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+10G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+10G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+10G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+10G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.422C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-293G>A
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37038
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

12-7053346-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053346
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053346
    reference: chr 12
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+10G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+10G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-293G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+10G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+10G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-293G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+10G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.422C>G
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37038
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56933
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-7053348-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053348
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053348
    reference: chr 12
allele count: 28
allele frequency: 2.308212289581719e-4
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-291C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+12C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+12C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.420G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-291C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+12C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+12C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+12C>T
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37042
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

12-7053349-CTAGTCAAGGCATAGGCTGCTGGCCTGGGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053349
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053320
    reference: chr 12
allele count: 1433
allele frequency: 1.180959601786686e-2
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 8.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 3.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 36514
  bin: 9.75e1
  variant carriers: 477
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 5.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 7.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 8.25e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 7.25e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 6.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 6.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 9.25e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57032
  bin: 9.75e1
  variant carriers: 1423
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 11
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: CTAGTCAAGGCATAGGCTGCTGGCCTGGGG
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

12-7053352-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053352
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053352
    reference: chr 12
allele count: 21
allele frequency: 1.761892776239617e-4
allele num: 119190
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+16G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+16G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+16G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-287G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.416C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-287G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+16G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+16G>C
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36148
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

12-7053353-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053353
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053353
    reference: chr 12
allele count: 2
allele frequency: 1.669198284064164e-5
allele num: 119818
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.415A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+17T>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-286T>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+17T>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+17T>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-286T>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+17T>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+17T>C
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36247
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56175
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

12-7053353-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053353
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053353
    reference: chr 12
allele count: 2
allele frequency: 1.669198284064164e-5
allele num: 119818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-286T>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+17T>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-286T>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+17T>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+17T>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+17T>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.415A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+17T>G
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36247
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

12-7053354-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053354
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053354
    reference: chr 12
allele count: 1
allele frequency: 8.362322718758362e-6
allele num: 119584
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+18C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.414G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+18C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+18C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-285C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-285C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+18C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+18C>G
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

12-7053354-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053354
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053354
    reference: chr 12
allele count: 2
allele frequency: 1.672464543751672e-5
allele num: 119584
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-285C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+18C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+18C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+18C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+18C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.414G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-285C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+18C>T
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36228
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56081
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

12-7053357-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053357
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053357
    reference: chr 12
allele count: 2
allele frequency: 1.675350567106167e-5
allele num: 119378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-282G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+21G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+21G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+21G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+21G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-282G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+21G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.411C>T
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36191
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55998
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

12-7053358-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053358
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053358
    reference: chr 12
allele count: 1
allele frequency: 8.371983992766606e-6
allele num: 119446
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-281G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+22G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.410C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+22G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+22G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+22G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+22G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-281G>C
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36188
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

12-7053360-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053360
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053360
    reference: chr 12
allele count: 2
allele frequency: 1.675238302648552e-5
allele num: 119386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+24A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-279A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.408T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+24A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+24A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+24A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-279A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+24A>G
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55993
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-7053360-A-ATGGGCTGCTGGCCTGGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053360
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053378
    reference: chr 12
allele count: 7
allele frequency: 5.863334059269931e-5
allele num: 119386
alternate allele: ATGGGCTGCTGGCCTGGGG
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36187
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD

12-7053361-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053361
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053361
    reference: chr 12
allele count: 1
allele frequency: 8.370302167908262e-6
allele num: 119470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-278T>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+25T>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+25T>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+25T>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.407A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+25T>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-278T>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+25T>G
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36199
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56038
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

12-7053362-A-AGTCAAGGCATG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053362
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053373
    reference: chr 12
allele count: 7
allele frequency: 5.789430154660491e-5
allele num: 120910
alternate allele: AGTCAAGGCATG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35015
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ

12-7053362-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053362
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053362
    reference: chr 12
allele count: 104439
allele frequency: 8.637747084608386e-1
allele num: 120910
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+26A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+26A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+26A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+26A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-277A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.406T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-277A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+26A>G
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 2.75e1
  variant carriers: 505
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35015
  bin: 9.75e1
  variant carriers: 34773
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 8.75e1
  variant carriers: 3437
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 6.25e1
  variant carriers: 1533
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 944
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 7.75e1
  variant carriers: 2705
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 6.75e1
  variant carriers: 1936
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.75e1
  variant carriers: 766
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.25e1
  variant carriers: 552
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.25e1
  variant carriers: 387
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.75e1
  variant carriers: 622
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 650
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 7.25e1
  variant carriers: 2329
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 5.75e1
  variant carriers: 1211
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 8.25e1
  variant carriers: 3056
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 9.25e1
  variant carriers: 3542
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.75e1
  variant carriers: 154
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 6.25e1
  variant carriers: 114
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 9.25e1
  variant carriers: 172
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 89
num of homozygotes: 45181
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-7053365-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053365
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053366
    reference: chr 12
allele count: 2
allele frequency: 1.683388324018585e-5
allele num: 118808
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+30dupT
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+30dupT
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+30dupT
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.402dupA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+30dupT
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-273dupT
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-273dupT
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+30dupT
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52279
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-7053365-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053365
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053365
    reference: chr 12
allele count: 5
allele frequency: 4.208470810046462e-5
allele num: 118808
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.403G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+29C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+29C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-274C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+29C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+29C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-274C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+29C>T
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12384
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

12-7053370-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053370
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053370
    reference: chr 12
allele count: 125
allele frequency: 1.049591079315499e-3
allele num: 119094
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+34G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+34G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.398C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+34G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-269G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+34G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+34G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-269G>C
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15504
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 8.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52849
  bin: 9.75e1
  variant carriers: 124
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

12-7053371-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053371
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053371
    reference: chr 12
allele count: 2
allele frequency: 1.685175511029474e-5
allele num: 118682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+35G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.397C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-268G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+35G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+35G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+35G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-268G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+35G>A
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11716
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

12-7053371-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053371
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053371
    reference: chr 12
allele count: 17
allele frequency: 1.432399184375053e-4
allele num: 118682
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.397C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+35G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+35G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+35G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-268G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+35G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-268G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+35G>C
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11716
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum

12-7053372-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053372
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053372
    reference: chr 12
allele count: 1
allele frequency: 8.384056877441857e-6
allele num: 119274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+36C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.396G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+36C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+36C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-267C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-267C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+36C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+36C>T
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16980
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53148
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

12-7053373-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053373
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053373
    reference: chr 12
allele count: 3
allele frequency: 2.530279005431666e-5
allele num: 118564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-266C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+37C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.395G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-266C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+37C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+37C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+37C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+37C>T
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4875
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10968
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52013
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

12-7053375-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053375
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053375
    reference: chr 12
allele count: 1
allele frequency: 8.408166010829718e-6
allele num: 118932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-264G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-264G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+39G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+39G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+39G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.393C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+39G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+39G>A
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13510
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

12-7053377-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053377
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053377
    reference: chr 12
allele count: 13
allele frequency: 1.091593054109428e-4
allele num: 119092
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-262G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-262G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+41G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+41G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+41G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.391C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+41G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+41G>A
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15599
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

12-7053378-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053378
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053378
    reference: chr 12
allele count: 3
allele frequency: 2.519441691721115e-5
allele num: 119074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-261G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+42G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.390C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-261G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+42G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+42G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+42G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+42G>A
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15549
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

12-7053379-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053379
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053379
    reference: chr 12
allele count: 1
allele frequency: 8.446088616361763e-6
allele num: 118398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-260T>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+43T>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.389A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+43T>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-260T>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+43T>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+43T>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+43T>G
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

12-7053380-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053380
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053380
    reference: chr 12
allele count: 5
allele frequency: 4.213222778367629e-5
allele num: 118674
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+44A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+44A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+44A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+44A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-259A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+44A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-259A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.388T>C
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9143
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

12-7053381-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053381
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053381
    reference: chr 12
allele count: 2
allele frequency: 1.650246711883427e-5
allele num: 121194
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.387C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-258G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+45G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+45G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-258G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+45G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+45G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+45G>A
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52863
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

12-7053387-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053387
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053387
    reference: chr 12
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.381C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.52+51G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.52+51G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-252G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-252G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.52+51G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.52+51G>C
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-150+51G>C
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9053
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/12-7053593-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053593
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053593
    reference: chr 12
allele count: 1
allele frequency: 1.32034117615992e-5
allele num: 75738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-99C>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.53-46C>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.53-46C>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.53-46C>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.53-46C>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.175G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-46C>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-46C>A
  variant of: http://identifiers.org/hgnc/29521
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 18659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7915
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8267
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5680
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD

12-7053594-CGACGCCTACCCGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053594
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053581
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 75626
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  variant of: http://identifiers.org/hgnc/29521
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18620
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14913
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3864
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: CGACGCCTACCCGG
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

12-7053602-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053602
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053602
    reference: chr 12
allele count: 1
allele frequency: 1.29315918789603e-5
allele num: 77330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.53-37A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-90A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-37A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.166T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.53-37A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-37A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.53-37A>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.53-37A>G
  variant of: http://identifiers.org/hgnc/29521
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5861
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

12-7053603-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053603
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053603
    reference: chr 12
allele count: 1
allele frequency: 1.291022231402825e-5
allele num: 77458
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.165G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-36C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.53-36C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-36C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.53-36C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.53-36C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.53-36C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-89C>G
  variant of: http://identifiers.org/hgnc/29521
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

12-7053604-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053604
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053604
    reference: chr 12
allele count: 1
allele frequency: 1.288726223001186e-5
allele num: 77596
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.53-35C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.164G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-35C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-88C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-35C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.53-35C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.53-35C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.53-35C>G
  variant of: http://identifiers.org/hgnc/29521
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18846
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18652
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4933
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

12-7053604-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053604
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053604
    reference: chr 12
allele count: 5
allele frequency: 6.443631115005928e-5
allele num: 77596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.53-35C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-88C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.53-35C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.53-35C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-35C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.164G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.53-35C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-35C>T
  variant of: http://identifiers.org/hgnc/29521
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18688
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8659
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5836
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 7861
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

12-7053605-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053605
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053605
    reference: chr 12
allele count: 2
allele frequency: 2.580911577969339e-5
allele num: 77492
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.163G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.53-34C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.53-34C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-87C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-34C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.53-34C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-34C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.53-34C>G
  variant of: http://identifiers.org/hgnc/29521
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18469
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7714
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

12-7053613-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053613
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053613
    reference: chr 12
allele count: 1
allele frequency: 1.228139123599921e-5
allele num: 81424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.53-26C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.53-26C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.155G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.53-26C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-26C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-79C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-26C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.53-26C>T
  variant of: http://identifiers.org/hgnc/29521
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15661
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18756
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6525
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-7053615-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053615
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053615
    reference: chr 12
allele count: 2
allele frequency: 2.433445271815837e-5
allele num: 82188
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.53-24C>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.153G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.53-24C>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.53-24C>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-24C>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.53-24C>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-24C>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-77C>A
  variant of: http://identifiers.org/hgnc/29521
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14856
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15212
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18504
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

12-7053616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053616
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053616
    reference: chr 12
allele count: 4
allele frequency: 4.836408483060479e-5
allele num: 82706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.53-23C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.53-23C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-23C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-76C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-23C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.152G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.53-23C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.53-23C>T
  variant of: http://identifiers.org/hgnc/29521
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15855
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5965
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

12-7053624-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053624
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053624
    reference: chr 12
allele count: 1
allele frequency: 1.138226188308141e-5
allele num: 87856
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.144C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.53-15G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-15G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.53-15G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-68G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-15G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.53-15G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.53-15G>A
  variant of: http://identifiers.org/hgnc/29521
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21497
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4473
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3907
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

12-7053625-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053625
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053625
    reference: chr 12
allele count: 5
allele frequency: 5.631772206077809e-5
allele num: 88782
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-14C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.53-14C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-14C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.53-14C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.143G>C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-67C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.53-14C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.53-14C>G
  variant of: http://identifiers.org/hgnc/29521
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22266
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4295
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS

12-7053628-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053628
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053628
    reference: chr 12
allele count: 1
allele frequency: 1.1033873993159e-5
allele num: 90630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-11C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-11C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.53-11C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.140G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.53-11C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-64C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.53-11C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.53-11C>T
  variant of: http://identifiers.org/hgnc/29521
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 24098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9662
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

12-7053636-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053636
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053636
    reference: chr 12
allele count: 32
allele frequency: 3.296250515039143e-4
allele num: 97080
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.132G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.53-3C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.53-3C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.53-3C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-56C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231-3C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.53-3C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389-3C>T
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11526
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6973
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28710
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7675
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32669
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 2.75e1
  variant carriers: 0
hgvs: c.53-3C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

12-7053637-AGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053637
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053635
    reference: chr 12
allele count: 1
allele frequency: 1.016094943911559e-5
allele num: 98416
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.53_54delTG
  hgvsp: ENSP00000229281.5:p.Val18GlyfsTer24
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.231_232delTG
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-53_-52delTG
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.53_54delTG
  hgvsp: ENSP00000440602.1:p.Val18GlyfsTer24
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.389_390delTG
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.53_54delTG
  hgvsp: ENSP00000475422.1:p.Val18GlyfsTer24
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.53_54delTG
  hgvsp: ENSP00000440937.1:p.Val18GlyfsTer24
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.129_130delAC
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
hgvs: c.53_54delTG
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: AGT
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

12-7053641-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053641
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053641
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 100824
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.55G>A
  hgvsp: ENSP00000440937.1:p.Val19Ile
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.391G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.55G>A
  hgvsp: ENSP00000229281.5:p.Val19Ile
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.55G>A
  hgvsp: ENSP00000440602.1:p.Val19Ile
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.55G>A
  hgvsp: ENSP00000475422.1:p.Val19Ile
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.127C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.233G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-51G>A
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9821
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35916
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3083
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val19Ile
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-7053643-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053643
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053643
    reference: chr 12
allele count: 1
allele frequency: 9.826657757163633e-6
allele num: 101764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.57C>G
  hgvsp: ENST00000544681.1:c.57C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.57C>G
  hgvsp: ENST00000537087.1:c.57C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.235C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.125G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.393C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.57C>G
  hgvsp: ENST00000229281.5:c.57C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.57C>G
  hgvsp: ENST00000545581.1:c.57C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-49C>G
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val19Val
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

12-7053643-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053643
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053643
    reference: chr 12
allele count: 1
allele frequency: 9.826657757163633e-6
allele num: 101764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.57C>T
  hgvsp: ENST00000537087.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.57C>T
  hgvsp: ENST00000545581.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-49C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.235C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.393C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.57C>T
  hgvsp: ENST00000544681.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.125G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.57C>T
  hgvsp: ENST00000229281.5:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val19Val
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

12-7053647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053647
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053647
    reference: chr 12
allele count: 8
allele frequency: 7.709060072850617e-5
allele num: 103774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.61G>A
  hgvsp: ENSP00000475422.1:p.Ala21Thr
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.61G>A
  hgvsp: ENSP00000440937.1:p.Ala21Thr
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.61G>A
  hgvsp: ENSP00000440602.1:p.Ala21Thr
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.61G>A
  hgvsp: ENSP00000229281.5:p.Ala21Thr
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-45G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.239G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.397G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.121C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9000
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33171
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala21Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

12-7053648-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053648
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053648
    reference: chr 12
allele count: 18
allele frequency: 1.725691714762334e-4
allele num: 104306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.240C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.62C>T
  hgvsp: ENSP00000440937.1:p.Ala21Val
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.62C>T
  hgvsp: ENSP00000440602.1:p.Ala21Val
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.398C>T
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.62C>T
  hgvsp: ENSP00000475422.1:p.Ala21Val
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.120G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.62C>T
  hgvsp: ENSP00000229281.5:p.Ala21Val
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-44C>T
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33296
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9188
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala21Val
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-7053649-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053649
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053649
    reference: chr 12
allele count: 3
allele frequency: 2.851168979281505e-5
allele num: 105220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.63G>A
  hgvsp: ENST00000537087.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.63G>A
  hgvsp: ENST00000545581.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.63G>A
  hgvsp: ENST00000544681.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.241G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.399G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-43G>A
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.63G>A
  hgvsp: ENST00000229281.5:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.119C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33844
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8374
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala21Ala
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-7053658-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7053658
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7053658
    reference: chr 12
allele count: 9
allele frequency: 8.243267997801796e-5
allele num: 109180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440602
  ensembl transcript: ENST00000545581
  gene symbol: C12orf57
  hgvsc: ENST00000545581.1:c.72C>G
  hgvsp: ENSP00000440602.1:p.Ile24Met
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475422
  ensembl transcript: ENST00000544681
  gene symbol: C12orf57
  hgvsc: ENST00000544681.1:c.72C>G
  hgvsp: ENSP00000475422.1:p.Ile24Met
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000440937
  ensembl transcript: ENST00000537087
  gene symbol: C12orf57
  hgvsc: ENST00000537087.1:c.72C>G
  hgvsp: ENSP00000440937.1:p.Ile24Met
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272173
  ensembl transcript: ENST00000607421
  gene symbol: U47924.31
  hgvsc: ENST00000607421.1:n.110G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000229281
  ensembl transcript: ENST00000229281
  gene symbol: C12orf57
  hgvsc: ENST00000229281.5:c.72C>G
  hgvsp: ENSP00000229281.5:p.Ile24Met
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000542222
  gene symbol: C12orf57
  hgvsc: ENST00000542222.1:n.250C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111678
  ensembl protein: ENSP00000475635
  ensembl transcript: ENST00000540506
  gene symbol: C12orf57
  hgvsc: ENST00000540506.2:c.-34C>G
  variant of: http://identifiers.org/hgnc/29521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111678
  ensembl transcript: ENST00000538392
  gene symbol: C12orf57
  hgvsc: ENST00000538392.1:n.408C>G
  variant of: http://identifiers.org/hgnc/29521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35877
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10416
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile24Met
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 408
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56923
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999400119976005e-5
allele num: 66680
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.288e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.825e-1

MQ
type: SiteQuality
SIO_000300: 5.897e1

DP
type: SiteQuality
SIO_000300: 6.395472e6

FS
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.598e0

GenotypeQuality
all individuals: 56925
bin: 9.75e1
variant carriers: 109

GenotypeQuality
all individuals: 307
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 613
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 407
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

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

South Asian
type: Population
allele count: 108
allele frequency: 6.540697674418605e-3
allele num: 16512
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

DP
type: SiteQuality
SIO_000300: 6.400856e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.276e1

VQSLOD
type: SiteQuality
SIO_000300: 4.45e0

FS
type: SiteQuality
SIO_000300: 5.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.488e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.51e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 616
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 224
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.222e1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.393777e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 9.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
all individuals: 307
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1305
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 406
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999310158663508e-5
allele num: 66682
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
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Other
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allele frequency: 0.0e0
allele num: 906
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-3

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.498965237995261e-5
allele num: 66682
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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South Asian
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Other
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allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
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QD
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MQ
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 5.99880023995201e-5
allele num: 66680
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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African
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allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.0e-4

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.57e-1

QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 4
allele frequency: 5.99880023995201e-5
allele num: 66680
num of homozygotes: 0

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

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

African
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allele frequency: 9.615384615384615e-5
allele num: 10400
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
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VQSLOD
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DP
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

QD
type: SiteQuality
SIO_000300: 1.085e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
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Other
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allele frequency: 0.0e0
allele num: 906
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South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

East Asian
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MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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QD
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MQ
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.48e-1

InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

Other
type: Population
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 8.997930475990522e-5
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num of homozygotes: 0

European (Finnish)
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East Asian
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South Asian
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
type: SiteQuality
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FS
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DP
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MQ
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ReadPosRankSum
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QD
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

African
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Other
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.728011059270779e-4
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num of homozygotes: 0

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

InbreedingCoeff
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QD
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MQRankSum
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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Latino
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African
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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Other
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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MQ
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MQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.37e1

DP
type: SiteQuality
SIO_000300: 6.392847e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.081e-1

FS
type: SiteQuality
SIO_000300: 1.0471e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.237e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.989e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-1

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

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 1263
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e-1

InbreedingCoeff
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SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e0

FS
type: SiteQuality
SIO_000300: 1.395e0

DP
type: SiteQuality
SIO_000300: 6.392714e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.443e1

VQSLOD
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SIO_000300: 2.89e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 6.392714e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

QD
type: SiteQuality
SIO_000300: 1.443e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e-1

FS
type: SiteQuality
SIO_000300: 1.395e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.267e1

MQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

DP
type: SiteQuality
SIO_000300: 6.392572e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.761e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

FS
type: SiteQuality
SIO_000300: 4.581e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349770539008369e-4
allele num: 66678
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

FS
type: SiteQuality
SIO_000300: 2.377e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.287e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.07e-1

DP
type: SiteQuality
SIO_000300: 6.39242e6

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.911e1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.451000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.75e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.392146e6

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

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

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

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

East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.111e1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.214e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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African
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East Asian
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QD
type: SiteQuality
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ReadPosRankSum
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DP
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BaseQRankSum
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FS
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MQ
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VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56913
bin: 9.75e1
variant carriers: 28

GenotypeQuality
all individuals: 595
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 28
allele frequency: 2.419633598340823e-3
allele num: 11572
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.287e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 6.391857e6

FS
type: SiteQuality
SIO_000300: 2.483e0

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.46e-1

QD
type: SiteQuality
SIO_000300: 1.368e1

GenotypeQuality
all individuals: 359
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 1

African
type: Population
allele count: 22
allele frequency: 2.114977888867526e-3
allele num: 10402
num of homozygotes: 0

Latino
type: Population
allele count: 43
allele frequency: 3.714581893572909e-3
allele num: 11576
num of homozygotes: 1

Other
type: Population
allele count: 11
allele frequency: 1.214128035320088e-2
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1026
allele frequency: 1.538646111394379e-2
allele num: 66682
num of homozygotes: 6

East Asian
type: Population
allele count: 59
allele frequency: 6.820809248554913e-3
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 244
allele frequency: 1.477713178294574e-2
allele num: 16512
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 28
allele frequency: 4.233444209253099e-3
allele num: 6614
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 5.496e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.69e-1

FS
type: SiteQuality
SIO_000300: 9.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.233e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 6.349809e6

MQRankSum
type: SiteQuality
SIO_000300: -4.71e0

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

GenotypeQuality
all individuals: 219
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55917
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16146
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: 10372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.223231827111984e-4
allele num: 65152
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

FS
type: SiteQuality
SIO_000300: 2.097e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

DP
type: SiteQuality
SIO_000300: 6.258778e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

QD
type: SiteQuality
SIO_000300: 1.533e1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 570
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.048966400390268e-5
allele num: 65596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.75e-1

QD
type: SiteQuality
SIO_000300: 1.531e1

DP
type: SiteQuality
SIO_000300: 6.284441e6

VQSLOD
type: SiteQuality
SIO_000300: 1.73e-1

FS
type: SiteQuality
SIO_000300: 9.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.557e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.72e0

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

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56175
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 358
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.166588894073728e-4
allele num: 8572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524483200195134e-5
allele num: 65596
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e-1

FS
type: SiteQuality
SIO_000300: 9.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.557e-1

QD
type: SiteQuality
SIO_000300: 1.531e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.82e-1

DP
type: SiteQuality
SIO_000300: 6.284441e6

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

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56081
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 359
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16236
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65410
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.05e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.01e-1

FS
type: SiteQuality
SIO_000300: 9.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 6.275862e6

QD
type: SiteQuality
SIO_000300: 1.315e1

GenotypeQuality
all individuals: 570
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 62
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 77
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 8.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16236
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.057636447026449e-5
allele num: 65410
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.01e-1

QD
type: SiteQuality
SIO_000300: 1.315e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

DP
type: SiteQuality
SIO_000300: 6.275862e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: -6.55e-1

FS
type: SiteQuality
SIO_000300: 9.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531815814466469e-5
allele num: 65282
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.166044776119403e-4
allele num: 8576
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16176
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.797e1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.340000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.135e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 9.79e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 6.266356e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 294
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56015
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 918
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16204
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530924678505817e-5
allele num: 65320
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.268904e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 9.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.476e1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 63
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 354
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16168
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.045066991473812e-4
allele num: 6568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65294
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.266011e6

VQSLOD
type: SiteQuality
SIO_000300: -9.59e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.01e-1

QD
type: SiteQuality
SIO_000300: 3.11e0

MQRankSum
type: SiteQuality
SIO_000300: -2.868e0

MQ
type: SiteQuality
SIO_000300: 5.621e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.58e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55993
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 354
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.165772907437631e-4
allele num: 8578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.59460287315833e-5
allele num: 65294
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.185056902523504e-5
allele num: 16168
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.118568232662192e-3
allele num: 894
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.58e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.868e0

MQ
type: SiteQuality
SIO_000300: 5.621e1

QD
type: SiteQuality
SIO_000300: 3.11e0

DP
type: SiteQuality
SIO_000300: 6.266011e6

VQSLOD
type: SiteQuality
SIO_000300: -9.59e-2

GenotypeQuality
all individuals: 389
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16206
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65332
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.039999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 1.392e1

MQ
type: SiteQuality
SIO_000300: 5.901e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.61e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.13e0

VQSLOD
type: SiteQuality
SIO_000300: -1.681e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

DP
type: SiteQuality
SIO_000300: 6.270487e6

GenotypeQuality
all individuals: 192
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 160
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59111
bin: 9.75e1
variant carriers: 7

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.519569736961041e-5
allele num: 66378
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.092360180333861e-5
allele num: 16414
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 6.271777e6

QD
type: SiteQuality
SIO_000300: 3.181e1

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

FS
type: SiteQuality
SIO_000300: 8.090000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 6

GenotypeQuality
all individuals: 95
bin: 7.25e1
variant carriers: 81

GenotypeQuality
all individuals: 160
bin: 6.75e1
variant carriers: 137

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 8

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

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 29

GenotypeQuality
all individuals: 59111
bin: 9.75e1
variant carriers: 58080

GenotypeQuality
all individuals: 192
bin: 8.25e1
variant carriers: 174

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 48

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 37

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

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 13

East Asian
type: Population
allele count: 7804
allele frequency: 9.034498726557073e-1
allele num: 8638
num of homozygotes: 3521

Other
type: Population
allele count: 776
allele frequency: 8.584070796460177e-1
allele num: 904
num of homozygotes: 333

European (Finnish)
type: Population
allele count: 5190
allele frequency: 7.861254165404423e-1
allele num: 6602
num of homozygotes: 2056

African
type: Population
allele count: 10018
allele frequency: 9.634545104827852e-1
allele num: 10398
num of homozygotes: 4826

South Asian
type: Population
allele count: 13370
allele frequency: 8.145485561106373e-1
allele num: 16414
num of homozygotes: 5446

European (Non-Finnish)
type: Population
allele count: 56270
allele frequency: 8.47720630329326e-1
allele num: 66378
num of homozygotes: 23761

Latino
type: Population
allele count: 11011
allele frequency: 9.511921216309606e-1
allele num: 11576
num of homozygotes: 5238

FS
type: SiteQuality
SIO_000300: 8.090000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.66e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

QD
type: SiteQuality
SIO_000300: 3.181e1

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

DP
type: SiteQuality
SIO_000300: 6.271777e6

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1602
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 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: 878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.241156758098548e-4
allele num: 16114
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.94e0

QD
type: SiteQuality
SIO_000300: 1.489e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.39067e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.616e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1602
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 52279
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variant carriers: 5

GenotypeQuality
all individuals: 545
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variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.523925632429137e-4
allele num: 6562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64864
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.482313516197095e-4
allele num: 16114
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.94e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-2

QD
type: SiteQuality
SIO_000300: 1.489e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

DP
type: SiteQuality
SIO_000300: 4.39067e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.616e0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

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

GenotypeQuality
all individuals: 173
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 849
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1531
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65062
num of homozygotes: 0

Latino
type: Population
allele count: 125
allele frequency: 1.085634879277401e-2
allele num: 11514
num of homozygotes: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16146
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.401e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.13e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.386e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.09e-1

DP
type: SiteQuality
SIO_000300: 4.644771e6

VQSLOD
type: SiteQuality
SIO_000300: 5.11e0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 52180
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 70
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variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
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: 10338
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.213495712687958e-5
allele num: 16094
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544067691927614e-5
allele num: 64764
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.402e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 4.33544e6

VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.237e0

FS
type: SiteQuality
SIO_000300: 9.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.59e-1

GenotypeQuality
all individuals: 52180
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 862
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 184
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

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

South Asian
type: Population
allele count: 17
allele frequency: 1.056294271156953e-3
allele num: 16094
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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European (Finnish)
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allele frequency: 0.0e0
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QD
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ClippingRankSum
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BaseQRankSum
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MQ
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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FS
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ReadPosRankSum
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SIO_000300: 6.59e-1

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

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 16200
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
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ClippingRankSum
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FS
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BaseQRankSum
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QD
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 2.902476780185758e-4
allele num: 10336
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South Asian
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Other
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ReadPosRankSum
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MQ
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FS
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DP
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VQSLOD
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QD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 886
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African
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allele frequency: 0.0e0
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South Asian
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allele num: 16124
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European (Finnish)
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ClippingRankSum
type: SiteQuality
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MQ
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VQSLOD
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DP
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FS
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQRankSum
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SIO_000300: 2.82e-1

BaseQRankSum
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SIO_000300: -2.686e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.738828029907842e-4
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European (Non-Finnish)
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allele frequency: 1.690487167665591e-4
allele num: 65070
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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DP
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FS
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MQ
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 880
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele num: 65050
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East Asian
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African
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allele frequency: 1.93050193050193e-4
allele num: 10360
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Latino
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MQRankSum
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VQSLOD
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QD
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MQ
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ClippingRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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East Asian
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QD
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MQ
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Other
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European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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DP
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VQSLOD
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ReadPosRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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MQ
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MQRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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Other
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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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DP
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MQRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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QD
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FS
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InbreedingCoeff
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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ReadPosRankSum
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FS
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MQ
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.374056312615735e-5
allele num: 42122
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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DP
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QD
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FS
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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QD
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DP
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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FS
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ReadPosRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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European (Non-Finnish)
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East Asian
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African
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allele frequency: 0.0e0
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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Other
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African
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Latino
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MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.99e-1

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

European (Non-Finnish)
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allele frequency: 2.325256940891969e-5
allele num: 43006
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East Asian
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European (Finnish)
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South Asian
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Latino
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African
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Other
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FS
type: SiteQuality
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ClippingRankSum
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MQ
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 5084
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African
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European (Finnish)
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Other
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South Asian
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Latino
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European (Non-Finnish)
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FS
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QD
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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African
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Other
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South Asian
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ClippingRankSum
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MQ
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DP
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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Other
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African
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East Asian
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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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FS
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MQ
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MQRankSum
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QD
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VQSLOD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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European (Finnish)
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Other
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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QD
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 9.41495e5

GenotypeQuality
all individuals: 89
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3333
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18470
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18931
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4916
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.533101045296167e-5
allele num: 45920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5544
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.497005988023952e-4
allele num: 6680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6910
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

FS
type: SiteQuality
SIO_000300: 1.416e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.831e0

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.16e1

DP
type: SiteQuality
SIO_000300: 9.4984e5

GenotypeQuality
all individuals: 697
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24352
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16564
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 608
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variant carriers: 1

GenotypeQuality
all individuals: 208
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7176
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.310272536687631e-4
allele num: 7632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48924
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.357e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

DP
type: SiteQuality
SIO_000300: 1.028987e6

QD
type: SiteQuality
SIO_000300: 1.018e1

GenotypeQuality
all individuals: 100
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 123
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25576
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 735
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2352
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3746
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.010386776057875e-4
allele num: 49486
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13852
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.142e1

VQSLOD
type: SiteQuality
SIO_000300: 6.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

DP
type: SiteQuality
SIO_000300: 1.040451e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

FS
type: SiteQuality
SIO_000300: 2.968e0

GenotypeQuality
all individuals: 609
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 715
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27398
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3852
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15399
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3850
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.35464643727987e-4
allele num: 7382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50566
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

QD
type: SiteQuality
SIO_000300: 3.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e0

DP
type: SiteQuality
SIO_000300: 1.066202e6

VQSLOD
type: SiteQuality
SIO_000300: -2.893e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.276e0

FS
type: SiteQuality
SIO_000300: 4.071e0

GenotypeQuality
all individuals: 541
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 704
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 127
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 106
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2868
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 2.030944204423766e-4
allele num: 54162
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

Latino
type: Population
allele count: 21
allele frequency: 2.358490566037736e-3
allele num: 8904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6834
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e-1

FS
type: SiteQuality
SIO_000300: 6.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.407e0

QD
type: SiteQuality
SIO_000300: 1.074e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-1

DP
type: SiteQuality
SIO_000300: 1.149684e6

GenotypeQuality
all individuals: 552
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2469
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34606
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
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variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2355
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
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variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2964
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11758
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6986
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.90894016857814e-5
allele num: 14474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9088
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.859999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.996e1

DP
type: SiteQuality
SIO_000300: 1.166401e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 7.63e-1

QD
type: SiteQuality
SIO_000300: 1.496e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-2

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
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variant carriers: 0

GenotypeQuality
all individuals: 129
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GenotypeQuality
all individuals: 10553
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
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variant carriers: 0

GenotypeQuality
all individuals: 2103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 608
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variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2212
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4376
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.19568e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 1.461e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.001e0

VQSLOD
type: SiteQuality
SIO_000300: 2.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
all individuals: 1995
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
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GenotypeQuality
all individuals: 672
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10096
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2121
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 8.75e1
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GenotypeQuality
all individuals: 576
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variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 891
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36556
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.764415272778601e-5
allele num: 56676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14768
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.128e0

QD
type: SiteQuality
SIO_000300: 5.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 1.206708e6

FS
type: SiteQuality
SIO_000300: 9.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 576
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36556
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
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variant carriers: 0

GenotypeQuality
all individuals: 10096
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
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GenotypeQuality
all individuals: 2121
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 672
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GenotypeQuality
all individuals: 110
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variant carriers: 0

GenotypeQuality
all individuals: 1184
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.259376412110258e-4
allele num: 4426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56676
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.128e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 9.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

DP
type: SiteQuality
SIO_000300: 1.206708e6

GenotypeQuality
all individuals: 1747
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1881
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38074
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9088
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3267
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 733
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.385089511409675e-4
allele num: 57758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.233529e6

QD
type: SiteQuality
SIO_000300: 1.097e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.022e0

MQRankSum
type: SiteQuality
SIO_000300: 7.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

GenotypeQuality
all individuals: 1827
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8831
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3290
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37928
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.01276078590237e-4
allele num: 9874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.756624513283484e-4
allele num: 58042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14986
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.333333333333333e-3
allele num: 750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4632
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.286e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

DP
type: SiteQuality
SIO_000300: 1.239866e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

QD
type: SiteQuality
SIO_000300: 1.167e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

GenotypeQuality
all individuals: 96
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 253
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1695
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.476245654692932e-4
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15056
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-1

DP
type: SiteQuality
SIO_000300: 1.251861e6

FS
type: SiteQuality
SIO_000300: 1.2379e1

VQSLOD
type: SiteQuality
SIO_000300: -9.743000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.16e-1

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0