1-247712385-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712385
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712385
    reference: chr 1
allele count: 1
allele frequency: 1.177606632280553e-5
allele num: 84918
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7324T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.-109T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.254T>C
  hgvsp: ENSP00000355446.3:p.Val85Ala
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14507T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169224
  ensembl transcript: ENST00000531662
  gene symbol: GCSAML
  hgvsc: ENST00000531662.1:n.522T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.-109T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7324T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7324T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.-56-53T>C
  variant of: http://identifiers.org/hgnc/29583
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val85Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-247712386-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712386
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712386
    reference: chr 1
allele count: 2
allele frequency: 2.315833352631944e-5
allele num: 86362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169224
  ensembl transcript: ENST00000531662
  gene symbol: GCSAML
  hgvsc: ENST00000531662.1:n.523G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.-56-52G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.-108G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7323G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14506G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.-108G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.255G>A
  hgvsp: ENST00000366490.3:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7323G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7323G>A
  variant of: http://identifiers.org/hgnc/29583
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16991
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29023
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17487
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val85Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

1-247712392-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712392
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712392
    reference: chr 1
allele count: 2
allele frequency: 2.122466305847395e-5
allele num: 94230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14500A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.-102A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.261A>G
  hgvsp: ENST00000366490.3:c.261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7317A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7317A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169224
  ensembl transcript: ENST00000531662
  gene symbol: GCSAML
  hgvsc: ENST00000531662.1:n.529A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7317A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.-102A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.-102A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.-56-46A>G
  variant of: http://identifiers.org/hgnc/29583
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32868
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg87Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

1-247712398-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712398
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712398
    reference: chr 1
allele count: 17
allele frequency: 1.674942854890833e-4
allele num: 101496
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.-96C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7311C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.267C>T
  hgvsp: ENST00000366490.3:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7311C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.-96C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.-96C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.-56-40C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14494C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169224
  ensembl transcript: ENST00000531662
  gene symbol: GCSAML
  hgvsc: ENST00000531662.1:n.535C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7311C>T
  variant of: http://identifiers.org/hgnc/29583
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36202
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8023
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn89Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

1-247712406-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712406
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712406
    reference: chr 1
allele count: 48
allele frequency: 4.288624423716093e-4
allele num: 111924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.-56-32C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14486C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169224
  ensembl transcript: ENST00000531662
  gene symbol: GCSAML
  hgvsc: ENST00000531662.1:n.543C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.275C>T
  hgvsp: ENSP00000355446.3:p.Pro92Leu
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.-88C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7303C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.-88C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7303C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.-88C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7303C>T
  variant of: http://identifiers.org/hgnc/29583
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41331
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9552
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4985
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4764
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro92Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-247712408-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712408
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712408
    reference: chr 1
allele count: 1
allele frequency: 8.820364457459382e-6
allele num: 113374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.-56-30C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169224
  ensembl transcript: ENST00000531662
  gene symbol: GCSAML
  hgvsc: ENST00000531662.1:n.545C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.-86C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.-86C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.-86C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.277C>T
  hgvsp: ENSP00000355446.3:p.His93Tyr
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14484C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7301C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7301C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7301C>T
  variant of: http://identifiers.org/hgnc/29583
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His93Tyr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

1-247712412-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712412
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712412
    reference: chr 1
allele count: 1
allele frequency: 8.629467907008854e-6
allele num: 115882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7297C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.281C>T
  hgvsp: ENSP00000355446.3:p.Ala94Val
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.-82C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.-82C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.-82C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14480C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.-56-26C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7297C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169224
  ensembl transcript: ENST00000531662
  gene symbol: GCSAML
  hgvsc: ENST00000531662.1:n.549C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7297C>T
  variant of: http://identifiers.org/hgnc/29583
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala94Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

1-247712440-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712440
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712440
    reference: chr 1
allele count: 9
allele frequency: 7.440476190476191e-5
allele num: 120960
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.-54C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7269C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.-54C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7269C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7269C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.309C>T
  hgvsp: ENST00000366490.3:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.-54C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.-54C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14452C>T
  variant of: http://identifiers.org/hgnc/29583
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12162
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
hgvs: c.-54C>T
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

1-247712448-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712448
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712448
    reference: chr 1
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14444A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.-46A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7261A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7261A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.-46A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7261A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.-46A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.317A>G
  hgvsp: ENSP00000355446.3:p.Lys106Arg
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.-46A>G
  variant of: http://identifiers.org/hgnc/29583
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys106Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

1-247712462-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712462
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712460
    reference: chr 1
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.-31_-30delAG
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14429_-7-14428delAG
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.-31_-30delAG
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.-31_-30delAG
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7246_-67-7245delAG
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.-31_-30delAG
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.-31_-30delAG
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7246_-67-7245delAG
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.332_333delAG
  hgvsp: ENSP00000355446.3:p.Gln111ArgfsTer21
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7246_-67-7245delAG
  variant of: http://identifiers.org/hgnc/29583
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln111ArgfsTer21
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: CAG
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

1-247712464-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712464
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712464
    reference: chr 1
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.-30G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.333G>A
  hgvsp: ENST00000366490.3:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.-30G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7245G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.-30G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14428G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.-30G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7245G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.-30G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7245G>A
  variant of: http://identifiers.org/hgnc/29583
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5671
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln111Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-247712474-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712474
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712474
    reference: chr 1
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.-20A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.-20A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.-20A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.-20A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7235A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7235A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.343A>G
  hgvsp: ENSP00000355446.3:p.Asn115Asp
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7235A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.-20A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14418A>G
  variant of: http://identifiers.org/hgnc/29583
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn115Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

1-247712477-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712477
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712477
    reference: chr 1
allele count: 4
allele frequency: 3.297391763115376e-5
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.346C>T
  hgvsp: ENSP00000355446.3:p.Arg116Ter
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7232C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.-17C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7232C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.-17C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7232C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14415C>T
  variant of: http://identifiers.org/hgnc/29583
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg116Ter
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-247712478-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712478
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712478
    reference: chr 1
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.-16G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.-16G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.-16G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.347G>A
  hgvsp: ENSP00000355446.3:p.Arg116Gln
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14414G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7231G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.-16G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7231G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7231G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.-16G>A
  variant of: http://identifiers.org/hgnc/29583
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg116Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

1-247712485-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712485
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712485
    reference: chr 1
allele count: 2
allele frequency: 1.648641519388024e-5
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7224T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7224T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7224T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14407T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.-9T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.-9T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.-9T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.-9T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.354T>C
  hgvsp: ENST00000366490.3:c.354T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.-9T>C
  variant of: http://identifiers.org/hgnc/29583
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr118Thr
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

1-247712486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712486
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712486
    reference: chr 1
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7223G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7223G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.-8G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.355G>A
  hgvsp: ENSP00000355446.3:p.Val119Met
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7223G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14406G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.-8G>A
  variant of: http://identifiers.org/hgnc/29583
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val119Met
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-247712486-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712486
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712486
    reference: chr 1
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.-8G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7223G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7223G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.-8G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.-8G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.355G>C
  hgvsp: ENSP00000355446.3:p.Val119Leu
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7223G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.-8G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.-8G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14406G>C
  variant of: http://identifiers.org/hgnc/29583
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val119Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

1-247712495-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712495
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712495
    reference: chr 1
allele count: 2
allele frequency: 1.648750247312537e-5
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.2T>C
  hgvsp: ENSP00000446460.1:p.Met1?
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.2T>C
  hgvsp: ENSP00000436079.1:p.Met1?
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.2T>C
  hgvsp: ENSP00000355447.2:p.Met1?
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7214T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14397T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.364T>C
  hgvsp: ENSP00000355446.3:p.Trp122Arg
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.2T>C
  hgvsp: ENSP00000355445.1:p.Met1?
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7214T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.2T>C
  hgvsp: ENSP00000355444.4:p.Met1?
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7214T>C
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/1-247712506-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712506
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712506
    reference: chr 1
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.13C>A
  hgvsp: ENSP00000355447.2:p.Leu5Ile
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.375C>A
  hgvsp: ENST00000366490.3:c.375C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.13C>A
  hgvsp: ENSP00000436079.1:p.Leu5Ile
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7203C>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7203C>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.13C>A
  hgvsp: ENSP00000446460.1:p.Leu5Ile
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.13C>A
  hgvsp: ENSP00000355444.4:p.Leu5Ile
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.13C>A
  hgvsp: ENSP00000355445.1:p.Leu5Ile
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7203C>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14386C>A
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu5Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-247712512-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712512
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712512
    reference: chr 1
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.19C>T
  hgvsp: ENSP00000446460.1:p.Arg7Ter
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.19C>T
  hgvsp: ENSP00000436079.1:p.Arg7Ter
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.19C>T
  hgvsp: ENSP00000355447.2:p.Arg7Ter
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14380C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.19C>T
  hgvsp: ENSP00000355444.4:p.Arg7Ter
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.381C>T
  hgvsp: ENST00000366490.3:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7197C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.19C>T
  hgvsp: ENSP00000355445.1:p.Arg7Ter
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7197C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7197C>T
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12589
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg7Ter
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

1-247712513-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712513
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712513
    reference: chr 1
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7196G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.20G>A
  hgvsp: ENSP00000355445.1:p.Arg7Gln
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.20G>A
  hgvsp: ENSP00000446460.1:p.Arg7Gln
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.20G>A
  hgvsp: ENSP00000355447.2:p.Arg7Gln
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.382G>A
  hgvsp: ENSP00000355446.3:p.Glu128Lys
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.20G>A
  hgvsp: ENSP00000355444.4:p.Arg7Gln
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7196G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14379G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7196G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.20G>A
  hgvsp: ENSP00000436079.1:p.Arg7Gln
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg7Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

1-247712516-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712516
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712516
    reference: chr 1
allele count: 1
allele frequency: 8.259684480052863e-6
allele num: 121070
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.23A>G
  hgvsp: ENSP00000355447.2:p.Lys8Arg
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.385A>G
  hgvsp: ENSP00000355446.3:p.Asn129Asp
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.23A>G
  hgvsp: ENSP00000436079.1:p.Lys8Arg
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.23A>G
  hgvsp: ENSP00000446460.1:p.Lys8Arg
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7193A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.23A>G
  hgvsp: ENSP00000355445.1:p.Lys8Arg
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.23A>G
  hgvsp: ENSP00000355444.4:p.Lys8Arg
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7193A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14376A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7193A>G
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys8Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/1-247712517-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712517
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712517
    reference: chr 1
allele count: 2
allele frequency: 1.652100645971353e-5
allele num: 121058
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.24A>C
  hgvsp: ENSP00000355444.4:p.Lys8Asn
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.24A>C
  hgvsp: ENSP00000446460.1:p.Lys8Asn
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.24A>C
  hgvsp: ENSP00000436079.1:p.Lys8Asn
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.24A>C
  hgvsp: ENSP00000355447.2:p.Lys8Asn
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.386A>C
  hgvsp: ENSP00000355446.3:p.Asn129Thr
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14375A>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.24A>C
  hgvsp: ENSP00000355445.1:p.Lys8Asn
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7192A>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7192A>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7192A>C
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys8Asn
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

1-247712518-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712518
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712518
    reference: chr 1
allele count: 4
allele frequency: 3.304638059516532e-5
allele num: 121042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7191C>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14374C>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.25C>G
  hgvsp: ENSP00000436079.1:p.Leu9Val
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.25C>G
  hgvsp: ENSP00000446460.1:p.Leu9Val
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.25C>G
  hgvsp: ENSP00000355447.2:p.Leu9Val
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.25C>G
  hgvsp: ENSP00000355444.4:p.Leu9Val
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.25C>G
  hgvsp: ENSP00000355445.1:p.Leu9Val
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7191C>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.387C>G
  hgvsp: ENSP00000355446.3:p.Asn129Lys
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7191C>G
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu9Val
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-247712525-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712525
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712525
    reference: chr 1
allele count: 2
allele frequency: 1.655629139072848e-5
allele num: 120800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.29+3G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14367G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.29+3G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.394G>A
  hgvsp: ENSP00000355446.3:p.Glu132Lys
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7184G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.29+3G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7184G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.29+3G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7184G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.29+3G>A
  variant of: http://identifiers.org/hgnc/29583
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5586
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu132Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

1-247712527-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712527
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712527
    reference: chr 1
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14365G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355446
  ensembl transcript: ENST00000366490
  gene symbol: GCSAML
  hgvsc: ENST00000366490.3:c.396G>A
  hgvsp: ENST00000366490.3:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7182G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.29+5G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.29+5G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.29+5G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7182G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.29+5G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.29+5G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7182G>A
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
hgvs: c.29+5G>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

1-247712543-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712543
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712543
    reference: chr 1
allele count: 1
allele frequency: 8.336112037345782e-6
allele num: 119960
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7166C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14349C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.29+21C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7166C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.29+21C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.29+21C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.29+21C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7166C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.29+21C>T
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5420
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-247712544-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712544
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712544
    reference: chr 1
allele count: 5
allele frequency: 4.171115856914042e-5
allele num: 119872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14348C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.29+22C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.29+22C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7165C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.29+22C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7165C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7165C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.29+22C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.29+22C>T
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12154
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/1-247712551-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712551
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712551
    reference: chr 1
allele count: 6
allele frequency: 5.020332346001305e-5
allele num: 119514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7158C>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.29+29C>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14341C>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.29+29C>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7158C>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.29+29C>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.29+29C>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.29+29C>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7158C>A
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11892
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40624
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45711
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-247712553-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712553
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712553
    reference: chr 1
allele count: 1
allele frequency: 8.372404554588077e-6
allele num: 119440
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.29+31T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7156T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7156T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.29+31T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7156T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.29+31T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.29+31T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14339T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.29+31T>C
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11809
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2797
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP

1-247712566-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712566
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712566
    reference: chr 1
allele count: 2
allele frequency: 1.682057492725101e-5
allele num: 118902
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.29+44A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.29+44A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.29+44A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.29+44A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7143A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7143A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7143A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14326A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.29+44A>G
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-247712567-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712567
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712567
    reference: chr 1
allele count: 1
allele frequency: 8.426019548365353e-6
allele num: 118680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.29+45C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7142C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.29+45C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7142C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.29+45C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7142C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14325C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.29+45C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.29+45C>T
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10901
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3540
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40114
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum

1-247712570-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712570
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712570
    reference: chr 1
allele count: 3
allele frequency: 2.529724260055654e-5
allele num: 118590
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.29+48A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7139A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7139A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14322A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7139A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.29+48A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.29+48A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.29+48A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.29+48A>G
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34899
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

1-247712572-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712572
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712572
    reference: chr 1
allele count: 6
allele frequency: 5.067738774958613e-5
allele num: 118396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7137A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.29+50A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.29+50A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.29+50A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.29+50A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.29+50A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7137A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7137A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14320A>G
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34397
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10380
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

1-247712572-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247712572
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247712572
    reference: chr 1
allele count: 4
allele frequency: 3.378492516639076e-5
allele num: 118396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.29+50A>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-7137A>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-7137A>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.29+50A>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-14320A>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-7137A>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.29+50A>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.29+50A>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.29+50A>T
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10380
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37114
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4821
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-247719665-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719665
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719665
    reference: chr 1
allele count: 1
allele frequency: 8.573535211509113e-6
allele num: 116638
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7227A>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-44A>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.29+7143A>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.29+7143A>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.30-44A>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.30-44A>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-44A>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.29+7143A>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-44A>C
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-247719669-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719669
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719669
    reference: chr 1
allele count: 1
allele frequency: 8.578389321620972e-6
allele num: 116572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7223C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-40C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-40C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.29+7147C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.30-40C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.30-40C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-40C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.29+7147C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.29+7147C>T
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

1-247719670-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719670
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719670
    reference: chr 1
allele count: 2
allele frequency: 1.714707042301823e-5
allele num: 116638
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.30-39A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-39A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-39A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.30-39A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.29+7148A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.29+7148A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7222A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-39A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.29+7148A>G
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17973
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3908
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD

1-247719677-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719677
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719677
    reference: chr 1
allele count: 1
allele frequency: 8.587524045067326e-6
allele num: 116448
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.29+7155A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.29+7155A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-32A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.29+7155A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-32A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.30-32A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.30-32A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7215A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-32A>G
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18051
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4649
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6806
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

1-247719682-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719682
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719682
    reference: chr 1
allele count: 1
allele frequency: 8.602594542514021e-6
allele num: 116244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7210T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.29+7160T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-27T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.29+7160T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.30-27T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-27T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-27T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.30-27T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.29+7160T>C
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4647
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-247719683-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719683
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719684
    reference: chr 1
allele count: 1
allele frequency: 8.607777988190129e-6
allele num: 116174
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7203dupT
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.29+7167dupT
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.29+7167dupT
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-20dupT
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.29+7167dupT
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-20dupT
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-20dupT
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.30-20dupT
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.30-20dupT
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6669
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

1-247719693-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719693
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719693
    reference: chr 1
allele count: 1
allele frequency: 8.635578583765113e-6
allele num: 115800
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.29+7171A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7199A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.30-16A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-16A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.30-16A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-16A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-16A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.29+7171A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.29+7171A>G
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-247719697-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719697
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719697
    reference: chr 1
allele count: 1
allele frequency: 8.644387199391435e-6
allele num: 115682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.30-12G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.29+7175G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.29+7175G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-12G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.29+7175G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-12G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7195G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.30-12G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-12G>A
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4823
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

1-247719697-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719697
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719697
    reference: chr 1
allele count: 1
allele frequency: 8.644387199391435e-6
allele num: 115682
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7195G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.29+7175G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.29+7175G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-12G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-12G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.30-12G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.30-12G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-12G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.29+7175G>C
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4823
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4644
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

1-247719700-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719700
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719700
    reference: chr 1
allele count: 1
allele frequency: 8.655310898767484e-6
allele num: 115536
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.29+7178T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.30-9T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-9T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-9T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-9T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7192T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.29+7178T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.29+7178T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.30-9T>C
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18560
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5012
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6431
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4644
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-247719708-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719708
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719708
    reference: chr 1
allele count: 1
allele frequency: 8.683419878084785e-6
allele num: 115162
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.30-1G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-67-1G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7184G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7184G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-67-1G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.30-1G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-67-1G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7184G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7184G>A
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
hgvs: c.30-1G>A
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD

1-247719716-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719716
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719716
    reference: chr 1
allele count: 5
allele frequency: 4.364525139664805e-5
allele num: 114560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-60G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.37G>C
  hgvsp: ENSP00000436079.1:p.Gly13Arg
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7176G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7176G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7176G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-60G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-60G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.37G>C
  hgvsp: ENSP00000355444.4:p.Gly13Arg
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7176G>C
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19537
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17720
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly13Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

1-247719734-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719734
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719734
    reference: chr 1
allele count: 8
allele frequency: 7.072010749456339e-5
allele num: 113122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.55C>T
  hgvsp: ENSP00000436079.1:p.Pro19Ser
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7158C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-42C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7158C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7158C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.55C>T
  hgvsp: ENSP00000355444.4:p.Pro19Ser
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-42C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-42C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7158C>T
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6085
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17150
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19078
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4641
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro19Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

1-247719738-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719738
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719738
    reference: chr 1
allele count: 1
allele frequency: 8.874689385871495e-6
allele num: 112680
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7154A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-38A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.59A>G
  hgvsp: ENSP00000436079.1:p.Lys20Arg
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.59A>G
  hgvsp: ENSP00000355444.4:p.Lys20Arg
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7154A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-38A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7154A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-38A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7154A>G
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7856
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys20Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-247719750-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719750
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719750
    reference: chr 1
allele count: 4
allele frequency: 3.613434750401995e-5
allele num: 110698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7142C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7142C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7142C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7142C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-26C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-26C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-26C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.71C>T
  hgvsp: ENSP00000355444.4:p.Pro24Leu
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.71C>T
  hgvsp: ENSP00000436079.1:p.Pro24Leu
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16301
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28783
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro24Leu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

1-247719757-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719757
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719757
    reference: chr 1
allele count: 1
allele frequency: 9.153485647334505e-6
allele num: 109248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7135G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-19G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.78G>C
  hgvsp: ENSP00000355444.4:p.Glu26Asp
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7135G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-19G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.78G>C
  hgvsp: ENSP00000436079.1:p.Glu26Asp
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-19G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7135G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7135G>C
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15715
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu26Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-247719760-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719760
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719760
    reference: chr 1
allele count: 2
allele frequency: 1.844133810349279e-5
allele num: 108452
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.81A>G
  hgvsp: ENST00000366488.4:c.81A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7132A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-16A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7132A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7132A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.81A>G
  hgvsp: ENST00000526896.1:c.81A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-16A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7132A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-16A>G
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15216
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu27Glu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

1-247719767-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719767
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719767
    reference: chr 1
allele count: 2
allele frequency: 1.885191818267509e-5
allele num: 106090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.88C>T
  hgvsp: ENSP00000436079.1:p.Arg30Trp
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7125C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7125C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.88C>T
  hgvsp: ENSP00000355444.4:p.Arg30Trp
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7125C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7125C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10293
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15656
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg30Trp
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-247719768-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719768
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719768
    reference: chr 1
allele count: 1
allele frequency: 9.506787846522416e-6
allele num: 105188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.89G>A
  hgvsp: ENSP00000436079.1:p.Arg30Gln
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7124G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7124G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7124G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7124G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.89G>A
  hgvsp: ENSP00000355444.4:p.Arg30Gln
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2887
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg30Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

1-247719769-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719769
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719769
    reference: chr 1
allele count: 5999
allele frequency: 5.720197570417835e-2
allele num: 104874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.89+1G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7123G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7123G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.89+1G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-8+1G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-8+1G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7123G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-8+1G>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7123G>A
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 1.75e1
  variant carriers: 1056
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 3.75e1
  variant carriers: 248
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 9140
  bin: 2.25e1
  variant carriers: 1145
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.25e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 14544
  bin: 1.25e1
  variant carriers: 602
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 3.25e1
  variant carriers: 484
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 6979
  bin: 7.5e0
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 9.75e1
  variant carriers: 506
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 12821
  bin: 2.75e1
  variant carriers: 835
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 9.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 8.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 17611
  bin: 6.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.5e0
  variant carriers: 6
hgvs: c.89+1G>A
num of homozygotes: 205
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-247719774-AAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719774
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719772
    reference: chr 1
allele count: 1
allele frequency: 9.847365829640572e-6
allele num: 101550
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.89+8_89+9delCA
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-8+8_-8+9delCA
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-8+8_-8+9delCA
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.89+8_89+9delCA
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7116_30-7115delCA
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7116_30-7115delCA
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7116_-7-7115delCA
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-8+8_-8+9delCA
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7116_30-7115delCA
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5221
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3986
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20822
  bin: 2.25e1
  variant carriers: 0
hgvs: c.89+8_89+9delCA
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: AAC
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

1-247719777-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719777
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719777
    reference: chr 1
allele count: 3
allele frequency: 3.088071807963108e-5
allele num: 97148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-8+9A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-8+9A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7115A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.89+9A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-8+9A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7115A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7115A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7115A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.89+9A>G
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2851
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

1-247719781-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719781
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719781
    reference: chr 1
allele count: 2
allele frequency: 2.072839582944676e-5
allele num: 96486
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7111C>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.89+13C>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7111C>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-8+13C>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7111C>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.89+13C>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7111C>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-8+13C>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-8+13C>G
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4597
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10724
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23815
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-247719781-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719781
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719781
    reference: chr 1
allele count: 3
allele frequency: 3.109259374417014e-5
allele num: 96486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-8+13C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-8+13C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.89+13C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.89+13C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-8+13C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7111C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7111C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7111C>T
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7111C>T
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9737
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7704
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21488
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10724
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23815
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

1-247719782-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719782
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719782
    reference: chr 1
allele count: 1
allele frequency: 1.039479428702106e-5
allele num: 96202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.89+14A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7110A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7110A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-8+14A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-8+14A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7110A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7110A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-8+14A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.89+14A>G
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7202
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4099
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4553
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

1-247719785-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719785
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719785
    reference: chr 1
allele count: 4
allele frequency: 4.284306584979221e-5
allele num: 93364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7107T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7107T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7107T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.89+17T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-8+17T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.89+17T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-8+17T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-8+17T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7107T>C
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22910
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4919
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

1-247719785-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719785
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719785
    reference: chr 1
allele count: 1
allele frequency: 1.071076646244805e-5
allele num: 93364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7107T>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-8+17T>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-8+17T>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.89+17T>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7107T>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-8+17T>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.89+17T>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7107T>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7107T>G
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-247719789-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719789
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719789
    reference: chr 1
allele count: 1
allele frequency: 1.095986497446351e-5
allele num: 91242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-8+21A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7103A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7103A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7103A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.89+21A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.89+21A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-8+21A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-8+21A>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7103A>G
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23422
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4279
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6042
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

1-247719793-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719793
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719793
    reference: chr 1
allele count: 10
allele frequency: 1.137449383502434e-4
allele num: 87916
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-8+25T>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7099T>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7099T>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7099T>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-8+25T>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.89+25T>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7099T>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.89+25T>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-8+25T>G
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23514
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11580
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5633
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4834
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5413
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5412
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

1-247719793-T-TTTTCGTTTTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719793
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719803
    reference: chr 1
allele count: 3
allele frequency: 3.412348150507302e-5
allele num: 87916
alternate allele: TTTTCGTTTTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5633
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23514
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5413
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

1-247719800-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719800
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719800
    reference: chr 1
allele count: 1
allele frequency: 1.48946945098156e-5
allele num: 67138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-8+32T>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7092T>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.89+32T>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7092T>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.89+32T>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7092T>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7092T>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-8+32T>A
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-8+32T>A
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18889
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6887
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: T
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ

1-247719802-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719802
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719802
    reference: chr 1
allele count: 6
allele frequency: 8.885203174979268e-5
allele num: 67528
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-8+34T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.89+34T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-8+34T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.89+34T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-8+34T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7090T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7090T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7090T>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7090T>C
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17981
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6944
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18743
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9932
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3562
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21506
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS

1-247719808-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719808
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719808
    reference: chr 1
allele count: 3
allele frequency: 4.459772848902896e-5
allele num: 67268
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.89+40G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-8+40G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7084G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-8+40G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7084G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7084G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.89+40G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-8+40G>C
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7084G>C
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18486
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD

1-247719813-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719813
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719814
    reference: chr 1
allele count: 1
allele frequency: 1.652783287055401e-5
allele num: 60504
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7073dupT
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355447
  ensembl transcript: ENST00000366491
  gene symbol: GCSAML
  hgvsc: ENST00000366491.2:c.30-7073dupT
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000432118
  ensembl transcript: ENST00000527084
  gene symbol: GCSAML
  hgvsc: ENST00000527084.1:c.-8+51dupT
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000436079
  ensembl transcript: ENST00000526896
  gene symbol: GCSAML
  hgvsc: ENST00000526896.1:c.89+51dupT
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7073dupT
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.89+51dupT
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7073dupT
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434084
  ensembl transcript: ENST00000529512
  gene symbol: GCSAML
  hgvsc: ENST00000529512.1:c.-8+51dupT
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000434526
  ensembl transcript: ENST00000463359
  gene symbol: GCSAML
  hgvsc: ENST00000463359.1:c.-8+51dupT
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15766
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10615
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

1-247719816-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 247719816
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 247719816
    reference: chr 1
allele count: 1
allele frequency: 1.737317581653926e-5
allele num: 57560
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000435110
  ensembl transcript: ENST00000527541
  gene symbol: GCSAML
  hgvsc: ENST00000527541.1:c.-7-7076T>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355445
  ensembl transcript: ENST00000366489
  gene symbol: GCSAML
  hgvsc: ENST00000366489.1:c.30-7076T>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000355444
  ensembl transcript: ENST00000366488
  gene symbol: GCSAML
  hgvsc: ENST00000366488.4:c.89+48T>G
  variant of: http://identifiers.org/hgnc/29583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169224
  ensembl protein: ENSP00000446460
  ensembl transcript: ENST00000536561
  gene symbol: GCSAML
  hgvsc: ENST00000536561.1:c.30-7076T>G
  variant of: http://identifiers.org/hgnc/29583
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 489
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3055
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1889
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18230
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 629
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 150
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.138488516316668e-5
allele num: 46762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5072
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7708
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 1.05198e6

QD
type: SiteQuality
SIO_000300: 1.122e1

GenotypeQuality
all individuals: 1642
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 88
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 821
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3153
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6894
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12744
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.203623523477237e-5
allele num: 47578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.691e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.066179e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 8.609999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1331
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13806
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33031
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3645
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51948
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8006
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.222687721559781e-4
allele num: 6206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13406
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.138028e6

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-2

FS
type: SiteQuality
SIO_000300: 3.246e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: 3.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.525e1

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36750
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1025
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 605
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4035
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.325414997137951e-4
allele num: 55904
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.195871761089152e-4
allele num: 9108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.717032967032967e-4
allele num: 5824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14018
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.116071428571429e-4
allele num: 8960
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6896
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.368e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.995e0

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

DP
type: SiteQuality
SIO_000300: 1.21194e6

FS
type: SiteQuality
SIO_000300: 2.458e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

GenotypeQuality
all individuals: 398
bin: 9.75e1
variant carriers: 48

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1276
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
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variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43768
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.494872768704899e-5
allele num: 10532
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.622112639501687e-5
allele num: 61648
num of homozygotes: 0

African
type: Population
allele count: 46
allele frequency: 4.753048150444306e-3
allele num: 9678
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15012
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.94e-1

DP
type: SiteQuality
SIO_000300: 1.315347e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

FS
type: SiteQuality
SIO_000300: 8.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

QD
type: SiteQuality
SIO_000300: 1.513e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
all individuals: 4901
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 343
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variant carriers: 0

GenotypeQuality
all individuals: 4233
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variant carriers: 0

GenotypeQuality
all individuals: 542
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variant carriers: 0

GenotypeQuality
all individuals: 460
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variant carriers: 0

GenotypeQuality
all individuals: 236
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 219
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44445
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variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.602410024677114e-5
allele num: 62406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10724
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

FS
type: SiteQuality
SIO_000300: 5.968e0

DP
type: SiteQuality
SIO_000300: 1.330955e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.53e-1

QD
type: SiteQuality
SIO_000300: 1.692e1

VQSLOD
type: SiteQuality
SIO_000300: -2.347e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.719e0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
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variant carriers: 0

GenotypeQuality
all individuals: 46148
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variant carriers: 0

GenotypeQuality
all individuals: 164
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 242
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variant carriers: 0

GenotypeQuality
all individuals: 756
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variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1481
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variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
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variant carriers: 0

GenotypeQuality
all individuals: 2910
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5107
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567152483936687e-5
allele num: 63810
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15522
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.710000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.683e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.44e-1

DP
type: SiteQuality
SIO_000300: 1.359268e6

GenotypeQuality
all individuals: 5597
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1620
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variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
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variant carriers: 0

GenotypeQuality
all individuals: 49804
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variant carriers: 0

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1521
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.938421509106678e-4
allele num: 11530
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.141e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.927e0

VQSLOD
type: SiteQuality
SIO_000300: 4.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.418921e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 5632
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49923
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variant carriers: 0

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

GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 1523
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
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variant carriers: 1

GenotypeQuality
all individuals: 247
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variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
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: 904
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.836e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.61e0

DP
type: SiteQuality
SIO_000300: 1.422205e6

QD
type: SiteQuality
SIO_000300: 1.446e1

FS
type: SiteQuality
SIO_000300: 1.669e0

MQRankSum
type: SiteQuality
SIO_000300: 2.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.23e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e-1

GenotypeQuality
all individuals: 257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5666
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
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variant carriers: 0

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

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 1623
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variant carriers: 0

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

GenotypeQuality
all individuals: 74
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50020
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.424596e6

QD
type: SiteQuality
SIO_000300: 5.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

MQRankSum
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SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

FS
type: SiteQuality
SIO_000300: 2.867e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.35e-1

FS
type: SiteQuality
SIO_000300: 1.2415e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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MQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.52e-1

DP
type: SiteQuality
SIO_000300: 1.424789e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

QD
type: SiteQuality
SIO_000300: 1.925e1

GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

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

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: 66680
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.876e0

ClippingRankSum
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SIO_000300: -1.586e0

QD
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SIO_000300: 1.299e1

VQSLOD
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InbreedingCoeff
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SIO_000300: 0.0e0

ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -8.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 1.425239e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499370088187654e-5
allele num: 66676
num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.11e-1

FS
type: SiteQuality
SIO_000300: 2.127e0

DP
type: SiteQuality
SIO_000300: 1.425486e6

BaseQRankSum
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SIO_000300: 7.54e-1

ReadPosRankSum
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SIO_000300: -1.51e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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 count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -4.785e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.584e0

FS
type: SiteQuality
SIO_000300: 9.1e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.425315e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.86e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Finnish)
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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: 8648
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999760019198464e-5
allele num: 66672
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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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num of homozygotes: 0

African
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Other
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European (Non-Finnish)
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allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

FS
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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QD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

South Asian
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European (Non-Finnish)
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allele frequency: 3.000030000300003e-5
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Other
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European (Finnish)
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African
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East Asian
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ClippingRankSum
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

QD
type: SiteQuality
SIO_000300: 1.327e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 1.425231e6

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5644
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1533
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 177
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 8.75e1
variant carriers: 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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.004e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.658e0

DP
type: SiteQuality
SIO_000300: 1.423847e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.613e0

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

GenotypeQuality
all individuals: 49722
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5627
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 8.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 5.679999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.423001e6

FS
type: SiteQuality
SIO_000300: 2.718e0

QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5630
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 255
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1614
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 2.25e1
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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.42203e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

QD
type: SiteQuality
SIO_000300: 9.19e0

FS
type: SiteQuality
SIO_000300: 1.025e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 255
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 62
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
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variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49574
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5621
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

DP
type: SiteQuality
SIO_000300: 1.421137e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.88e-1

QD
type: SiteQuality
SIO_000300: 1.433e1

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

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

GenotypeQuality
all individuals: 334
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1607
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1522
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5622
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49593
bin: 6.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.223840411210378e-4
allele num: 16342
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.421108e6

QD
type: SiteQuality
SIO_000300: 1.332e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.68e0

FS
type: SiteQuality
SIO_000300: 5.546e0

VQSLOD
type: SiteQuality
SIO_000300: 8.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

GenotypeQuality
all individuals: 49558
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5620
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1519
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.506128334534967e-5
allele num: 66576
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.918e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

DP
type: SiteQuality
SIO_000300: 1.420942e6

FS
type: SiteQuality
SIO_000300: 4.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.092e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.52e-1

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

GenotypeQuality
all individuals: 1595
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
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variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 53
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 252
bin: 8.75e1
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GenotypeQuality
all individuals: 74
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 791
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GenotypeQuality
all individuals: 1513
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49218
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729505361466621e-4
allele num: 11564
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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16172
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.075e-1

DP
type: SiteQuality
SIO_000300: 1.416323e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.094e0

FS
type: SiteQuality
SIO_000300: 3.257e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

GenotypeQuality
all individuals: 49161
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 5578
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variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
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GenotypeQuality
all individuals: 241
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variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
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variant carriers: 1

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

GenotypeQuality
all individuals: 252
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variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16138
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.105e1

VQSLOD
type: SiteQuality
SIO_000300: -2.352e0

DP
type: SiteQuality
SIO_000300: 1.414828e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.5711e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.809e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.91e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66272
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15610
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.395293e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

FS
type: SiteQuality
SIO_000300: 4.166e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

VQSLOD
type: SiteQuality
SIO_000300: -1.358e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.279e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.13e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 776
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.462004500605851e-4
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15554
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50961625554784e-5
allele num: 66242
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.386e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.446e0

DP
type: SiteQuality
SIO_000300: 1.392785e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 767
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66150
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 6
allele frequency: 3.913383772501957e-4
allele num: 15332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.19e1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

DP
type: SiteQuality
SIO_000300: 1.376356e6

FS
type: SiteQuality
SIO_000300: 2.057e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.505e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15294
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: 66118
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-2

QD
type: SiteQuality
SIO_000300: 1.15e1

VQSLOD
type: SiteQuality
SIO_000300: -1.991e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.55e-1

MQ
type: SiteQuality
SIO_000300: 5.797e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.371084e6

GenotypeQuality
all individuals: 161
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 95
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14948
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.031956824934813e-5
allele num: 65964
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.335002e6

VQSLOD
type: SiteQuality
SIO_000300: 2.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.162e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

QD
type: SiteQuality
SIO_000300: 1.635e1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65896
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14814
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.154e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.202e1

DP
type: SiteQuality
SIO_000300: 1.331771e6

MQRankSum
type: SiteQuality
SIO_000300: -6.51e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65872
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.136363636363636e-3
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.355380862022228e-4
allele num: 14756
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

FS
type: SiteQuality
SIO_000300: 2.971e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.3e-1

QD
type: SiteQuality
SIO_000300: 9.99e0

DP
type: SiteQuality
SIO_000300: 1.322007e6

GenotypeQuality
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GenotypeQuality
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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: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.115493300112425e-5
allele num: 65822
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.148e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.315989e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 1.5e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 753
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 177
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GenotypeQuality
all individuals: 2610
bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 1361
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GenotypeQuality
all individuals: 372
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65822
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 count: 4
allele frequency: 2.732987154960371e-4
allele num: 14636
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

DP
type: SiteQuality
SIO_000300: 1.315989e6

QD
type: SiteQuality
SIO_000300: 1.5e1

BaseQRankSum
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SIO_000300: 3.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
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SIO_000300: 4.6e-1

FS
type: SiteQuality
SIO_000300: 2.148e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64036
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8186
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15888
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10970
num of homozygotes: 0

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

FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQ
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QD
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MQRankSum
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SIO_000300: -9.8e-1

DP
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.38e-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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 10972
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6558
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: 0.0e0
allele num: 8168
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.562451173400831e-5
allele num: 64002
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 3.32e0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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SIO_000300: 7.123e0

MQRankSum
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 1.03e0

BaseQRankSum
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SIO_000300: 2.78e-1

VQSLOD
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SIO_000300: -2.897e0

MQ
type: SiteQuality
SIO_000300: 5.652e1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15904
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8170
num of homozygotes: 0

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

African
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allele count: 2
allele frequency: 1.974723538704581e-4
allele num: 10128
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.867e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.906e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 5.811e1

VQSLOD
type: SiteQuality
SIO_000300: -1.075e0

DP
type: SiteQuality
SIO_000300: 1.801185e6

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

QD
type: SiteQuality
SIO_000300: 1.09e1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63950
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.142439202779301e-5
allele num: 10938
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15888
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.866e1

FS
type: SiteQuality
SIO_000300: 3.78e0

MQRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.803957e6

ClippingRankSum
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SIO_000300: 1.6e0

ReadPosRankSum
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SIO_000300: -1.805e0

BaseQRankSum
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SIO_000300: 1.86e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10924
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 1.566366968453369e-5
allele num: 63842
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VQSLOD
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QD
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ReadPosRankSum
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MQRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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ClippingRankSum
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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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63796
num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 63580
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East Asian
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African
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South Asian
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Other
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BaseQRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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FS
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DP
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VQSLOD
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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Latino
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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MQ
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MQRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -3.746e0

QD
type: SiteQuality
SIO_000300: 1.307e1

GenotypeQuality
all individuals: 1409
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10854
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.240694789081886e-4
allele num: 8060
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63508
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-1

QD
type: SiteQuality
SIO_000300: 1.307e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

DP
type: SiteQuality
SIO_000300: 1.804951e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.746e0

FS
type: SiteQuality
SIO_000300: 2.015e0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

GenotypeQuality
all individuals: 1433
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30156
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 617
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GenotypeQuality
all individuals: 1903
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.230201218386561e-5
allele num: 10834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0

VQSLOD
type: SiteQuality
SIO_000300: -3.491e0

QD
type: SiteQuality
SIO_000300: 1.093e1

MQ
type: SiteQuality
SIO_000300: 5.829e1

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.85e-1

DP
type: SiteQuality
SIO_000300: 1.801906e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.904e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1157
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variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.581878005568211e-5
allele num: 63216
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.433e0

VQSLOD
type: SiteQuality
SIO_000300: -3.367e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.04e-1

DP
type: SiteQuality
SIO_000300: 1.801404e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

QD
type: SiteQuality
SIO_000300: 8.5e-1

GenotypeQuality
all individuals: 165
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1829
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1004
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variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5904825524064e-5
allele num: 62874
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.375585974123383e-5
allele num: 10666
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.985668789808917e-4
allele num: 10048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7952
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15662
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

QD
type: SiteQuality
SIO_000300: 1.101e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.487e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.32e0

DP
type: SiteQuality
SIO_000300: 1.798108e6

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

GenotypeQuality
all individuals: 31660
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1717
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.222376180195276e-5
allele num: 62066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.87411381490707e-4
allele num: 10438
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.012048192771085e-4
allele num: 9960
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15534
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 5.47e-1

QD
type: SiteQuality
SIO_000300: 1.105e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.136e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.774649e6

GenotypeQuality
all individuals: 31236
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
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variant carriers: 0

GenotypeQuality
all individuals: 13
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15492
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.007455168245013e-4
allele num: 9926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7774
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61826
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

VQSLOD
type: SiteQuality
SIO_000300: -2.846e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.171e0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 1.763404e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-2

QD
type: SiteQuality
SIO_000300: 2.92e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.977066034005536e-4
allele num: 10116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.29489291598023e-5
allele num: 60700
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.031e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.725269e6

QD
type: SiteQuality
SIO_000300: 1.495e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.669672076404194e-5
allele num: 59892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7466
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 9.3e-1

QD
type: SiteQuality
SIO_000300: 1.034e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.282e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.64e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 76
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GenotypeQuality
all individuals: 13127
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GenotypeQuality
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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: 2023
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GenotypeQuality
all individuals: 1517
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7386
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.047502047502048e-4
allele num: 9768
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15086
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.664149e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.056e0

FS
type: SiteQuality
SIO_000300: 5.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e0

QD
type: SiteQuality
SIO_000300: 1.57e1

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4630
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20037
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4861
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9430
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.397819401733296e-4
allele num: 7154
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.718213058419244e-5
allele num: 58200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6214
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 2.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e-1

DP
type: SiteQuality
SIO_000300: 1.607864e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: 6.79e-1

QD
type: SiteQuality
SIO_000300: 1.216e1

GenotypeQuality
all individuals: 185
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.414027149321267e-4
allele num: 7072
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14762
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.549e-1

FS
type: SiteQuality
SIO_000300: 2.579e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

QD
type: SiteQuality
SIO_000300: 5.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.175e0

MQ
type: SiteQuality
SIO_000300: 5.883e1

DP
type: SiteQuality
SIO_000300: 1.587275e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

GenotypeQuality
all individuals: 313
bin: 5.25e1
variant carriers: 29

GenotypeQuality
all individuals: 2463
bin: 3.25e1
variant carriers: 18

GenotypeQuality
all individuals: 916
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 2922
bin: 2.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1371
bin: 7.75e1
variant carriers: 33

GenotypeQuality
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variant carriers: 32

GenotypeQuality
all individuals: 249
bin: 4.75e1
variant carriers: 28

GenotypeQuality
all individuals: 189
bin: 1.75e1
variant carriers: 6

GenotypeQuality
all individuals: 16264
bin: 2.25e1
variant carriers: 8

GenotypeQuality
all individuals: 277
bin: 5.75e1
variant carriers: 23

GenotypeQuality
all individuals: 9191
bin: 9.75e1
variant carriers: 5540

GenotypeQuality
all individuals: 260
bin: 4.25e1
variant carriers: 9

GenotypeQuality
all individuals: 4266
bin: 6.75e1
variant carriers: 31

GenotypeQuality
all individuals: 885
bin: 3.75e1
variant carriers: 20

Other
type: Population
allele count: 60
allele frequency: 7.462686567164178e-2
allele num: 804
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 346
allele frequency: 5.598705501618123e-2
allele num: 6180
num of homozygotes: 6

East Asian
type: Population
allele count: 229
allele frequency: 3.251917069014484e-2
allele num: 7042
num of homozygotes: 3

Latino
type: Population
allele count: 284
allele frequency: 3.059026281775097e-2
allele num: 9284
num of homozygotes: 3

African
type: Population
allele count: 353
allele frequency: 3.777825342465754e-2
allele num: 9344
num of homozygotes: 6

European (Non-Finnish)
type: Population
allele count: 4245
allele frequency: 7.385434427085145e-2
allele num: 57478
num of homozygotes: 169

South Asian
type: Population
allele count: 482
allele frequency: 3.269569936236603e-2
allele num: 14742
num of homozygotes: 14

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.114e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

QD
type: SiteQuality
SIO_000300: 1.392e1

DP
type: SiteQuality
SIO_000300: 1.61588e6

FS
type: SiteQuality
SIO_000300: 1.414e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.62e0

GenotypeQuality
all individuals: 3564
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
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variant carriers: 0

GenotypeQuality
all individuals: 522
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variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15055
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variant carriers: 0

GenotypeQuality
all individuals: 48
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GenotypeQuality
all individuals: 1217
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variant carriers: 0

GenotypeQuality
all individuals: 1500
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variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4551
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4102
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.80538003249684e-5
allele num: 55390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9146
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

DP
type: SiteQuality
SIO_000300: 1.447111e6

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

FS
type: SiteQuality
SIO_000300: 1.817e0

MQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.78e-1

QD
type: SiteQuality
SIO_000300: 1.222e1

GenotypeQuality
all individuals: 291
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9822
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4103
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1735
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4501
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variant carriers: 0

GenotypeQuality
all individuals: 2479
bin: 7.5e0
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GenotypeQuality
all individuals: 4658
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variant carriers: 0

GenotypeQuality
all individuals: 1223
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variant carriers: 0

GenotypeQuality
all individuals: 518
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variant carriers: 0

GenotypeQuality
all individuals: 399
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variant carriers: 0

GenotypeQuality
all individuals: 875
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GenotypeQuality
all individuals: 23398
bin: 2.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.127357821585591e-4
allele num: 14102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52720
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.347697e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

QD
type: SiteQuality
SIO_000300: 1.674e1

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

GenotypeQuality
all individuals: 2589
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4362
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1591
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2792
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4104
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.821169277799006e-5
allele num: 52340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5858
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 1.343127e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.43e-1

FS
type: SiteQuality
SIO_000300: 1.891e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

GenotypeQuality
all individuals: 210
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4104
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1591
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
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GenotypeQuality
all individuals: 221
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2589
bin: 7.5e0
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GenotypeQuality
all individuals: 4362
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
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variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
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variant carriers: 0

GenotypeQuality
all individuals: 2792
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4597
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 3.579098067287044e-4
allele num: 8382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14018
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.343127e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.43e-1

FS
type: SiteQuality
SIO_000300: 1.891e0

QD
type: SiteQuality
SIO_000300: 1.312e1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

GenotypeQuality
all individuals: 1660
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24168
bin: 2.25e1
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GenotypeQuality
all individuals: 871
bin: 8.25e1
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GenotypeQuality
all individuals: 2721
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2785
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.75e1
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GenotypeQuality
all individuals: 4755
bin: 2.75e1
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GenotypeQuality
all individuals: 232
bin: 4.75e1
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GenotypeQuality
all individuals: 517
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GenotypeQuality
all individuals: 9958
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8750
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5858
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.916002452483139e-5
allele num: 52192
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

DP
type: SiteQuality
SIO_000300: 1.328803e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

QD
type: SiteQuality
SIO_000300: 9.65e0

GenotypeQuality
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4101
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 399
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6070
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5756
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.920560747663551e-4
allele num: 13696
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

QD
type: SiteQuality
SIO_000300: 1.177e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.284228e6

GenotypeQuality
all individuals: 24539
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2589
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.976518954816777e-5
allele num: 50594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6070
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

DP
type: SiteQuality
SIO_000300: 1.284228e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 1.177e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1814
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.024127601003967e-5
allele num: 49404
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5876
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

QD
type: SiteQuality
SIO_000300: 8.029999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.104e-1

DP
type: SiteQuality
SIO_000300: 1.251617e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5488
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.801801801801802e-4
allele num: 5550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.894816623857847e-4
allele num: 47498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7244
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.72e-2

DP
type: SiteQuality
SIO_000300: 1.215774e6

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 1.104e0

QD
type: SiteQuality
SIO_000300: 1.358e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5412
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variant carriers: 0

GenotypeQuality
all individuals: 24252
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13178
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.685503685503685e-4
allele num: 8140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47498
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

QD
type: SiteQuality
SIO_000300: 1.358e1

FS
type: SiteQuality
SIO_000300: 1.104e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.215774e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.72e-2

GenotypeQuality
all individuals: 1206
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.793296089385475e-5
allele num: 35800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11116
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4448
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.083586e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.533e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.88e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

QD
type: SiteQuality
SIO_000300: 1.358e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4766
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36008
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 1.334519572953737e-3
allele num: 4496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3850
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.072e0

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.82e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

QD
type: SiteQuality
SIO_000300: 1.183e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4476
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.542701393095094e-4
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35858
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.667e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

DP
type: SiteQuality
SIO_000300: 1.074057e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.96e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.524e1

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
all individuals: 3954
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GenotypeQuality
all individuals: 1609
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3678
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.117206982543641e-5
allele num: 32080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3256
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.04732e6

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-2

FS
type: SiteQuality
SIO_000300: 4.288e0

QD
type: SiteQuality
SIO_000300: 6.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1