1-46657986-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46657986
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46657986
    reference: chr 1
allele count: 3
allele frequency: 2.47133254250692e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1407G>A
  hgvsp: ENST00000371986.3:c.1407G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1341G>A
  hgvsp: ENST00000535522.1:c.1341G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000463030
  gene symbol: POMGNT1
  hgvsc: ENST00000463030.1:n.28G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.793G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*1076G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1407G>A
  hgvsp: ENST00000371984.3:c.1407G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1407G>A
  hgvsp: ENST00000371992.1:c.1407G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro469Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

1-46657987-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46657987
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46657987
    reference: chr 1
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1406C>T
  hgvsp: ENSP00000361060.1:p.Pro469Leu
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1406C>T
  hgvsp: ENSP00000361054.3:p.Pro469Leu
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*1075C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.792C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000463030
  gene symbol: POMGNT1
  hgvsc: ENST00000463030.1:n.27C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1406C>T
  hgvsp: ENSP00000361052.3:p.Pro469Leu
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1340C>T
  hgvsp: ENSP00000443767.1:p.Pro447Leu
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro469Leu
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/1-46657997-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46657997
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46657997
    reference: chr 1
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1396T>G
  hgvsp: ENSP00000361052.3:p.Trp466Gly
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1396T>G
  hgvsp: ENSP00000361054.3:p.Trp466Gly
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1330T>G
  hgvsp: ENSP00000443767.1:p.Trp444Gly
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000463030
  gene symbol: POMGNT1
  hgvsc: ENST00000463030.1:n.17T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*1065T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.782T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1396T>G
  hgvsp: ENSP00000361060.1:p.Trp466Gly
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Trp466Gly
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

1-46658001-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658001
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658001
    reference: chr 1
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.778C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1392C>T
  hgvsp: ENST00000371986.3:c.1392C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000463030
  gene symbol: POMGNT1
  hgvsc: ENST00000463030.1:n.13C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1392C>T
  hgvsp: ENST00000371992.1:c.1392C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1392C>T
  hgvsp: ENST00000371984.3:c.1392C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*1061C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1326C>T
  hgvsp: ENST00000535522.1:c.1326C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro464Pro
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

1-46658016-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658016
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658016
    reference: chr 1
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1377G>A
  hgvsp: ENST00000371992.1:c.1377G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1311G>A
  hgvsp: ENST00000535522.1:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*1046G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.763G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1377G>A
  hgvsp: ENST00000371986.3:c.1377G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1377G>A
  hgvsp: ENST00000371984.3:c.1377G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46699
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5840
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Lys459Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ

1-46658028-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658028
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658028
    reference: chr 1
allele count: 4
allele frequency: 3.296304842271814e-5
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1365G>A
  hgvsp: ENST00000371984.3:c.1365G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1299G>A
  hgvsp: ENST00000535522.1:c.1299G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*1034G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1365G>A
  hgvsp: ENST00000371992.1:c.1365G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.751G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1365G>A
  hgvsp: ENST00000371986.3:c.1365G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg455Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

1-46658030-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658030
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658030
    reference: chr 1
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1363A>C
  hgvsp: ENST00000371984.3:c.1363A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1297A>C
  hgvsp: ENST00000535522.1:c.1297A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1363A>C
  hgvsp: ENST00000371992.1:c.1363A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*1032A>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.749A>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1363A>C
  hgvsp: ENST00000371986.3:c.1363A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4351
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg455Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-46658049-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658049
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658049
    reference: chr 1
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*1013G>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1278G>T
  hgvsp: ENST00000535522.1:c.1278G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1344G>T
  hgvsp: ENST00000371984.3:c.1344G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1344G>T
  hgvsp: ENST00000371992.1:c.1344G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.730G>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1344G>T
  hgvsp: ENST00000371986.3:c.1344G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5837
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly448Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

1-46658049-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658049
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658049
    reference: chr 1
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1344G>C
  hgvsp: ENST00000371986.3:c.1344G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*1013G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1344G>C
  hgvsp: ENST00000371992.1:c.1344G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1344G>C
  hgvsp: ENST00000371984.3:c.1344G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.730G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1278G>C
  hgvsp: ENST00000535522.1:c.1278G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4300
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly448Gly
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

1-46658051-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658051
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658051
    reference: chr 1
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1276G>C
  hgvsp: ENSP00000443767.1:p.Gly426Arg
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1342G>C
  hgvsp: ENSP00000361060.1:p.Gly448Arg
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.728G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*1011G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1342G>C
  hgvsp: ENSP00000361052.3:p.Gly448Arg
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1342G>C
  hgvsp: ENSP00000361054.3:p.Gly448Arg
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly448Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

1-46658052-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658052
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658052
    reference: chr 1
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*1010T>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1341T>C
  hgvsp: ENST00000371986.3:c.1341T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1341T>C
  hgvsp: ENST00000371992.1:c.1341T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1275T>C
  hgvsp: ENST00000535522.1:c.1275T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.727T>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1341T>C
  hgvsp: ENST00000371984.3:c.1341T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro447Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-46658068-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658068
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658068
    reference: chr 1
allele count: 4
allele frequency: 3.298969072164949e-5
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1325G>A
  hgvsp: ENSP00000361052.3:p.Arg442His
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1259G>A
  hgvsp: ENSP00000443767.1:p.Arg420His
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1325G>A
  hgvsp: ENSP00000361060.1:p.Arg442His
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*994G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1325G>A
  hgvsp: ENSP00000361054.3:p.Arg442His
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.711G>A
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5839
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg442His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

1-46658094-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658094
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658094
    reference: chr 1
allele count: 3
allele frequency: 2.475492623031983e-5
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1299G>A
  hgvsp: ENST00000371992.1:c.1299G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.685G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1299G>A
  hgvsp: ENST00000371984.3:c.1299G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1299G>A
  hgvsp: ENST00000371986.3:c.1299G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1233G>A
  hgvsp: ENST00000535522.1:c.1233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*968G>A
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12557
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38069
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4273
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr433Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-46658095-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658095
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658095
    reference: chr 1
allele count: 385
allele frequency: 3.176567656765676e-3
allele num: 121200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*967C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1298C>T
  hgvsp: ENSP00000361060.1:p.Thr433Met
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.684C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1298C>T
  hgvsp: ENSP00000361054.3:p.Thr433Met
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1232C>T
  hgvsp: ENSP00000443767.1:p.Thr411Met
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1298C>T
  hgvsp: ENSP00000361052.3:p.Thr433Met
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12528
  bin: 2.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37772
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 3.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 4.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 5.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr433Met
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-46658107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658107
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658107
    reference: chr 1
allele count: 2
allele frequency: 1.650519088253256e-5
allele num: 121174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1220G>A
  hgvsp: ENSP00000443767.1:p.Gly407Glu
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1286G>A
  hgvsp: ENSP00000361052.3:p.Gly429Glu
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1286G>A
  hgvsp: ENSP00000361060.1:p.Gly429Glu
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.672G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1286G>A
  hgvsp: ENSP00000361054.3:p.Gly429Glu
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*955G>A
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37669
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly429Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

1-46658110-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658110
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658110
    reference: chr 1
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1219-2A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.671-2A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1285-2A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1285-2A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  clinical significance: likely_pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1285-2A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*954-2A>G
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1285-2A>G
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

1-46658112-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658112
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658112
    reference: chr 1
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1285-4C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1285-4C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1219-4C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*954-4C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.671-4C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1285-4C>T
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45512
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1285-4C>T
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

1-46658114-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658114
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658114
    reference: chr 1
allele count: 6
allele frequency: 4.951393817359587e-5
allele num: 121178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.671-6C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1285-6C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*954-6C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1219-6C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1285-6C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1285-6C>T
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5838
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1285-6C>T
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

1-46658130-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658130
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658130
    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: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1285-22C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1219-22C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1285-22C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.671-22C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1285-22C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*954-22C>T
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ

1-46658139-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658139
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658139
    reference: chr 1
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1285-31A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*954-31A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1285-31A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1285-31A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.671-31A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1219-31A>G
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS

1-46658141-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658141
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658141
    reference: chr 1
allele count: 4
allele frequency: 3.30169211721007e-5
allele num: 121150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.671-33C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1285-33C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1285-33C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1219-33C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*954-33C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1285-33C>T
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5839
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-46658142-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658142
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658142
    reference: chr 1
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1219-34G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*954-34G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.671-34G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1285-34G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1285-34G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1285-34G>C
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

1-46658146-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658146
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658146
    reference: chr 1
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1219-38C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1285-38C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.671-38C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*954-38C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1285-38C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1285-38C>T
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45912
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

1-46658159-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658159
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658159
    reference: chr 1
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.670+31G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1284+31G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*953+31G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1284+31G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1218+31G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1284+31G>A
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

1-46658160-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658160
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658160
    reference: chr 1
allele count: 27
allele frequency: 2.229194187582563e-4
allele num: 121120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*953+30C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1218+30C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1284+30C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1284+30C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.670+30C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1284+30C>T
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13487
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

1-46658181-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658181
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658181
    reference: chr 1
allele count: 3
allele frequency: 2.478519497686715e-5
allele num: 121040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.670+9G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1284+9G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1218+9G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1284+9G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1284+9G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*953+9G>C
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4298
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

1-46658182-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658182
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658182
    reference: chr 1
allele count: 3
allele frequency: 2.478478544637399e-5
allele num: 121042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*953+8G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1284+8G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1218+8G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1284+8G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.670+8G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1284+8G>A
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1284+8G>A
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/1-46658188-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658188
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658188
    reference: chr 1
allele count: 1
allele frequency: 8.262277744728666e-6
allele num: 121032
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1284+2T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1284+2T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.670+2T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1218+2T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*953+2T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1284+2T>G
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13619
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1284+2T>G
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

1-46658200-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658200
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658200
    reference: chr 1
allele count: 1
allele frequency: 8.26801600687899e-6
allele num: 120948
alternate allele: G
annotation: Annotation
  canonical: true
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1274G>C
  hgvsp: ENSP00000361060.1:p.Trp425Ser
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1274G>C
  hgvsp: ENSP00000361054.3:p.Trp425Ser
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1274G>C
  hgvsp: ENSP00000361052.3:p.Trp425Ser
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1208G>C
  hgvsp: ENSP00000443767.1:p.Trp403Ser
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.660G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*943G>C
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5841
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Trp425Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-46658204-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658204
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658204
    reference: chr 1
allele count: 1
allele frequency: 8.271572260455268e-6
allele num: 120896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*939G>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1270G>T
  hgvsp: ENSP00000361052.3:p.Ala424Ser
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1270G>T
  hgvsp: ENSP00000361054.3:p.Ala424Ser
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1204G>T
  hgvsp: ENSP00000443767.1:p.Ala402Ser
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1270G>T
  hgvsp: ENSP00000361060.1:p.Ala424Ser
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.656G>T
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4262
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala424Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-46658205-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658205
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658205
    reference: chr 1
allele count: 7
allele frequency: 5.789621689577027e-5
allele num: 120906
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1269T>G
  hgvsp: ENST00000371992.1:c.1269T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.655T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1203T>G
  hgvsp: ENST00000535522.1:c.1203T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*938T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1269T>G
  hgvsp: ENST00000371986.3:c.1269T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1269T>G
  hgvsp: ENST00000371984.3:c.1269T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13691
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4268
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser423Ser
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

1-46658217-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658217
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658217
    reference: chr 1
allele count: 1088
allele frequency: 9.01124749457503e-3
allele num: 120738
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1191G>A
  hgvsp: ENST00000535522.1:c.1191G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1257G>A
  hgvsp: ENST00000371986.3:c.1257G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1257G>A
  hgvsp: ENST00000371992.1:c.1257G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.643G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1257G>A
  hgvsp: ENST00000371984.3:c.1257G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*926G>A
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.75e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.25e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 13519
  bin: 2.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 3.25e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 36014
  bin: 2.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 4088
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45059
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu419Leu
num of homozygotes: 10
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

1-46658226-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658226
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658226
    reference: chr 1
allele count: 2
allele frequency: 1.659392994042779e-5
allele num: 120526
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1182T>C
  hgvsp: ENST00000535522.1:c.1182T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*917T>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1248T>C
  hgvsp: ENST00000371992.1:c.1248T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.634T>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1248T>C
  hgvsp: ENST00000371986.3:c.1248T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1248T>C
  hgvsp: ENST00000371984.3:c.1248T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5892
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp416Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-46658238-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658238
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658238
    reference: chr 1
allele count: 3
allele frequency: 2.496297159213833e-5
allele num: 120178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1170A>G
  hgvsp: ENST00000535522.1:c.1170A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1236A>G
  hgvsp: ENST00000371992.1:c.1236A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.622A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1236A>G
  hgvsp: ENST00000371986.3:c.1236A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*905A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1236A>G
  hgvsp: ENST00000371984.3:c.1236A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13490
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu412Leu
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: T
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

1-46658240-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658240
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658240
    reference: chr 1
allele count: 1
allele frequency: 8.327642777435419e-6
allele num: 120082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1234C>T
  hgvsp: ENST00000371984.3:c.1234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1168C>T
  hgvsp: ENST00000535522.1:c.1168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.620C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1234C>T
  hgvsp: ENST00000371992.1:c.1234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*903C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1234C>T
  hgvsp: ENST00000371986.3:c.1234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13441
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu412Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

1-46658244-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658244
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658244
    reference: chr 1
allele count: 1
allele frequency: 8.340283569641367e-6
allele num: 119900
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1230C>G
  hgvsp: ENSP00000361052.3:p.Ile410Met
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1230C>G
  hgvsp: ENSP00000361054.3:p.Ile410Met
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1164C>G
  hgvsp: ENSP00000443767.1:p.Ile388Met
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.616C>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*899C>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1230C>G
  hgvsp: ENSP00000361060.1:p.Ile410Met
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5891
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3951
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile410Met
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

1-46658245-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658245
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658245
    reference: chr 1
allele count: 2
allele frequency: 1.668056713928273e-5
allele num: 119900
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1229T>C
  hgvsp: ENSP00000361054.3:p.Ile410Thr
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1229T>C
  hgvsp: ENSP00000361052.3:p.Ile410Thr
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*898T>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.615T>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1229T>C
  hgvsp: ENSP00000361060.1:p.Ile410Thr
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1163T>C
  hgvsp: ENSP00000443767.1:p.Ile388Thr
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3956
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5892
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile410Thr
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

1-46658254-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658254
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658254
    reference: chr 1
allele count: 1
allele frequency: 8.390951198227832e-6
allele num: 119176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.606G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1220G>A
  hgvsp: ENSP00000361054.3:p.Ser407Asn
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*889G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1220G>A
  hgvsp: ENSP00000361052.3:p.Ser407Asn
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1220G>A
  hgvsp: ENSP00000361060.1:p.Ser407Asn
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1154G>A
  hgvsp: ENSP00000443767.1:p.Ser385Asn
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser407Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

1-46658265-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658265
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658265
    reference: chr 1
allele count: 2
allele frequency: 1.693193362682018e-5
allele num: 118120
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1212-3C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1212-3C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1212-3C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1146-3C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.598-3C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*881-3C>T
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5891
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1212-3C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-46658266-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658266
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658266
    reference: chr 1
allele count: 1
allele frequency: 8.465823470648991e-6
allele num: 118122
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1212-4T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1146-4T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1212-4T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*881-4T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1212-4T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.598-4T>G
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1212-4T>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

1-46658272-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658272
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658272
    reference: chr 1
allele count: 1
allele frequency: 8.523259976475802e-6
allele num: 117326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1146-10C>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.598-10C>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1212-10C>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1212-10C>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1212-10C>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*881-10C>A
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28275
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-46658273-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658273
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658273
    reference: chr 1
allele count: 1
allele frequency: 8.533588203167667e-6
allele num: 117184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.598-11G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*881-11G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1146-11G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1212-11G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1212-11G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1212-11G>C
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5889
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33753
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-46658277-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658277
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658277
    reference: chr 1
allele count: 1
allele frequency: 8.566044200788075e-6
allele num: 116740
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1146-15C>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.598-15C>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1212-15C>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1212-15C>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*881-15C>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1212-15C>G
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3478
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5891
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

1-46658283-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658283
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658283
    reference: chr 1
allele count: 1
allele frequency: 8.634087376964255e-6
allele num: 115820
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*881-21C>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1212-21C>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1212-21C>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1146-21C>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.598-21C>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1212-21C>G
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20786
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8255
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5893
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4044
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 707
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
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genotype quality: GenotypeQuality
  all individuals: 5149
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genotype quality: GenotypeQuality
  all individuals: 540
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 5.75e1
  variant carriers: 0
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: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum

1-46658286-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658286
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658286
    reference: chr 1
allele count: 1
allele frequency: 8.644088308006155e-6
allele num: 115686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.598-24A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*881-24A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1212-24A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1212-24A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1146-24A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1212-24A>G
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 4250
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3609
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

1-46658295-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658295
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658295
    reference: chr 1
allele count: 1
allele frequency: 8.761016978850905e-6
allele num: 114142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1212-33C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1212-33C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*881-33C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.598-33C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1146-33C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1212-33C>T
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13982
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6807
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

1-46658310-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658310
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658310
    reference: chr 1
allele count: 1
allele frequency: 8.992805755395683e-6
allele num: 111200
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1212-48A>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*881-48A>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1146-48A>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.598-48A>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1212-48A>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1212-48A>C
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10655
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7610
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6826
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4315
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

1-46658524-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658524
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658524
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1211+48A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1211+48A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1211+48A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.597+48A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1145+48A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*880+48A>G
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37958
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58760
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 17
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

1-46658528-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658528
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658528
    reference: chr 1
allele count: 154
allele frequency: 1.26847108050673e-3
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1211+44A>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1145+44A>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1211+44A>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.597+44A>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*880+44A>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1211+44A>C
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2170
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37960
  bin: 9.75e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58764
  bin: 9.75e1
  variant carriers: 153
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
  all individuals: 22
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-46658530-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658530
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658530
    reference: chr 1
allele count: 4
allele frequency: 3.294621530351701e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*880+42G>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1211+42G>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1211+42G>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1211+42G>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.597+42G>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1145+42G>T
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37921
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/1-46658533-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658533
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658533
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*880+39T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1211+39T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.597+39T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1211+39T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1211+39T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1145+39T>G
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37920
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-46658548-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658548
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658548
    reference: chr 1
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1145+24G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*880+24G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1211+24G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1211+24G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.597+24G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1211+24G>A
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37919
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58761
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-46658556-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658556
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658556
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1211+16A>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.597+16A>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*880+16A>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1211+16A>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1145+16A>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1211+16A>C
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37918
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
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genotype depth: GenotypeDepth
  all individuals: 465
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 236
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 254
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genotype quality: GenotypeQuality
  all individuals: 456
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 284
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

1-46658564-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658564
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658564
    reference: chr 1
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*880+8G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1211+8G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1211+8G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1211+8G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.597+8G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1145+8G>C
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37917
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1211+8G>C
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

1-46658574-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658574
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658575
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1142dupT
  hgvsp: ENSP00000443767.1:p.Ser382GlnfsTer14
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.594dupT
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1208dupT
  hgvsp: ENSP00000361054.3:p.Ser404GlnfsTer14
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1208dupT
  hgvsp: ENSP00000361052.3:p.Ser404GlnfsTer14
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1208dupT
  hgvsp: ENSP00000361060.1:p.Ser404GlnfsTer14
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*877dupT
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37915
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58762
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser404GlnfsTer14
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

1-46658585-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658585
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658585
    reference: chr 1
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1132G>C
  hgvsp: ENSP00000443767.1:p.Val378Leu
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1198G>C
  hgvsp: ENSP00000361060.1:p.Val400Leu
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1198G>C
  hgvsp: ENSP00000361054.3:p.Val400Leu
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*867G>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1198G>C
  hgvsp: ENSP00000361052.3:p.Val400Leu
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.584G>C
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37915
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58762
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val400Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

1-46658598-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658598
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658598
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.571C>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1119C>G
  hgvsp: ENSP00000443767.1:p.Asp373Glu
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1185C>G
  hgvsp: ENSP00000361052.3:p.Asp395Glu
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1185C>G
  hgvsp: ENSP00000361060.1:p.Asp395Glu
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*854C>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1185C>G
  hgvsp: ENSP00000361054.3:p.Asp395Glu
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37913
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp395Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

1-46658615-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658615
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658615
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1168G>A
  hgvsp: ENSP00000361060.1:p.Val390Met
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1168G>A
  hgvsp: ENSP00000361054.3:p.Val390Met
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1168G>A
  hgvsp: ENSP00000361052.3:p.Val390Met
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.554G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1102G>A
  hgvsp: ENSP00000443767.1:p.Val368Met
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*837G>A
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37913
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58763
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val390Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-46658618-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658618
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658618
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1099G>T
  hgvsp: ENSP00000443767.1:p.Ala367Ser
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*834G>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1165G>T
  hgvsp: ENSP00000361052.3:p.Ala389Ser
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1165G>T
  hgvsp: ENSP00000361054.3:p.Ala389Ser
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.551G>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1165G>T
  hgvsp: ENSP00000361060.1:p.Ala389Ser
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37913
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58763
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala389Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

1-46658618-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658618
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658618
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1165G>A
  hgvsp: ENSP00000361060.1:p.Ala389Thr
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1165G>A
  hgvsp: ENSP00000361054.3:p.Ala389Thr
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1165G>A
  hgvsp: ENSP00000361052.3:p.Ala389Thr
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*834G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.551G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1099G>A
  hgvsp: ENSP00000443767.1:p.Ala367Thr
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37913
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala389Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

1-46658626-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658626
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658626
    reference: chr 1
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*826C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1157C>T
  hgvsp: ENSP00000361060.1:p.Ala386Val
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1157C>T
  hgvsp: ENSP00000361052.3:p.Ala386Val
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1157C>T
  hgvsp: ENSP00000361054.3:p.Ala386Val
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1091C>T
  hgvsp: ENSP00000443767.1:p.Ala364Val
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.543C>T
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37911
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58764
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala386Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

1-46658643-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658643
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658643
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1153-13A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1153-13A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1153-13A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.539-13A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1087-13A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*822-13A>G
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37909
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

1-46658648-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658648
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658648
    reference: chr 1
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1153-18G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*822-18G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.539-18G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1153-18G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1087-18G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1153-18G>A
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37910
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
  all individuals: 58763
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/1-46658649-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658649
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658649
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*822-19T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1087-19T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.539-19T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1153-19T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1153-19T>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1153-19T>G
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37910
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 271
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

1-46658649-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658649
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658649
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1087-19T>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1153-19T>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1153-19T>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*822-19T>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1153-19T>C
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.539-19T>C
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37910
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58763
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 420
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

1-46658659-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658659
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658659
    reference: chr 1
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1153-29G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*822-29G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1153-29G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1153-29G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.539-29G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1087-29G>A
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37908
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58764
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

1-46658663-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658663
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658663
    reference: chr 1
allele count: 13
allele frequency: 1.070875481893967e-4
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1153-33C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1153-33C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.539-33C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1087-33C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1153-33C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*822-33C>T
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37910
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS

1-46658664-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658664
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658664
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.539-34C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1153-34C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1153-34C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*822-34C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1153-34C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1087-34C>T
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37904
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58763
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

1-46658667-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658667
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658667
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1087-37A>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*822-37A>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1153-37A>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1153-37A>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.539-37A>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1153-37A>T
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37903
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

1-46658667-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658667
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658667
    reference: chr 1
allele count: 7
allele frequency: 5.766347595433053e-5
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*822-37A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1087-37A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1153-37A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1153-37A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.539-37A>G
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1153-37A>G
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37903
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58763
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

1-46658668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658668
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658668
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.539-38G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1153-38G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1153-38G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1087-38G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1153-38G>A
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*822-38G>A
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37901
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58763
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

1-46658679-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658679
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658679
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1087-49C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.539-49C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1153-49C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*822-49C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1153-49C>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1153-49C>T
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37900
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

1-46658680-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46658680
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46658680
    reference: chr 1
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361060
  ensembl transcript: ENST00000371992
  gene symbol: POMGNT1
  hgvsc: ENST00000371992.1:c.1153-50A>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361054
  ensembl transcript: ENST00000371986
  gene symbol: POMGNT1
  hgvsc: ENST00000371986.3:c.1153-50A>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl transcript: ENST00000485714
  gene symbol: POMGNT1
  hgvsc: ENST00000485714.1:n.539-50A>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000361052
  ensembl transcript: ENST00000371984
  gene symbol: POMGNT1
  hgvsc: ENST00000371984.3:c.1153-50A>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000379698
  ensembl transcript: ENST00000396420
  gene symbol: POMGNT1
  hgvsc: ENST00000396420.3:c.*822-50A>T
  variant of: http://identifiers.org/hgnc/19139
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085998
  ensembl protein: ENSP00000443767
  ensembl transcript: ENST00000535522
  gene symbol: POMGNT1
  hgvsc: ENST00000535522.1:c.1087-50A>T
  variant of: http://identifiers.org/hgnc/19139
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1202
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5844
bin: 9.75e1
variant carriers: 3

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: 908
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495863805299125e-5
allele num: 66728
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.613964e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 1.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

MQRankSum
type: SiteQuality
SIO_000300: -2.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

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

GenotypeQuality
all individuals: 46742
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 8.25e1
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GenotypeQuality
all individuals: 4355
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
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: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.991e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.36e-1

DP
type: SiteQuality
SIO_000300: 1.614137e6

QD
type: SiteQuality
SIO_000300: 1.181e1

MQRankSum
type: SiteQuality
SIO_000300: 2.31e0

FS
type: SiteQuality
SIO_000300: 1.108e0

VQSLOD
type: SiteQuality
SIO_000300: -1.343e0

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

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.613825e6

VQSLOD
type: SiteQuality
SIO_000300: 5.38e-1

FS
type: SiteQuality
SIO_000300: 6.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.03e0

MQRankSum
type: SiteQuality
SIO_000300: 7.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.384e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 66724
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: 908
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.63e-1

DP
type: SiteQuality
SIO_000300: 1.613797e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.287e1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.208e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

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

Other
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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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99805126667666e-5
allele num: 66710
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.61338e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.591e0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.92e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.01e-1

FS
type: SiteQuality
SIO_000300: 6.017e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

GenotypeQuality
all individuals: 1203
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5843
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variant carriers: 4

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.457814661134163e-4
allele num: 11568
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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.025e0

QD
type: SiteQuality
SIO_000300: 1.206e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.083e0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.521e0

VQSLOD
type: SiteQuality
SIO_000300: 9.52e-1

DP
type: SiteQuality
SIO_000300: 1.613019e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 334
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.094e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.235e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.78e1

MQRankSum
type: SiteQuality
SIO_000300: -3.05e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.6128e6

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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bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

African
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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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num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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VQSLOD
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QD
type: SiteQuality
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DP
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GenotypeQuality
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bin: 2.25e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 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: 908
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

FS
type: SiteQuality
SIO_000300: 1.684e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
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MQ
type: SiteQuality
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MQRankSum
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DP
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ClippingRankSum
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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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

South Asian
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East Asian
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allele count: 0
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allele num: 8652
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African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66680
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African
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allele frequency: 0.0e0
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South Asian
type: Population
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allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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Other
type: Population
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Latino
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

MQRankSum
type: SiteQuality
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QD
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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FS
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.682e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 169
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GenotypeQuality
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GenotypeQuality
all individuals: 96
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GenotypeQuality
all individuals: 1192
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45789
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.5004500450045e-5
allele num: 66660
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.124e0

DP
type: SiteQuality
SIO_000300: 1.611917e6

QD
type: SiteQuality
SIO_000300: 1.577e1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

FS
type: SiteQuality
SIO_000300: 2.935e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

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

GenotypeQuality
all individuals: 177
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5839
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 408
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45653
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.927525057825752e-4
allele num: 10376
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.612717e6

FS
type: SiteQuality
SIO_000300: 7.923e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

MQ
type: SiteQuality
SIO_000300: 5.994e1

QD
type: SiteQuality
SIO_000300: 1.349e1

GenotypeQuality
all individuals: 1173
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 178
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6207
bin: 9.75e1
variant carriers: 384

GenotypeQuality
all individuals: 982
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 6
allele frequency: 6.63716814159292e-3
allele num: 904
num of homozygotes: 0

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

African
type: Population
allele count: 14
allele frequency: 1.349787890474354e-3
allele num: 10372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 123
allele frequency: 1.861943687556767e-2
allele num: 6606
num of homozygotes: 0

Latino
type: Population
allele count: 180
allele frequency: 1.556824078879087e-2
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 57
allele frequency: 8.554961877889175e-4
allele num: 66628
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.033980582524272e-4
allele num: 16480
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.67e0

FS
type: SiteQuality
SIO_000300: 5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

QD
type: SiteQuality
SIO_000300: 1.442e1

DP
type: SiteQuality
SIO_000300: 1.622129e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

GenotypeQuality
all individuals: 45654
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4324
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5837
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 184
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1183
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.646922631680494e-5
allele num: 10366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.941e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-2

QD
type: SiteQuality
SIO_000300: 1.174e1

FS
type: SiteQuality
SIO_000300: 4.166e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.87e-1

MQ
type: SiteQuality
SIO_000300: 5.816e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

DP
type: SiteQuality
SIO_000300: 1.615034e6

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

GenotypeQuality
all individuals: 5837
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 149
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45628
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4338
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.615135e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 1.3616e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.908e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.083e1

GenotypeQuality
all individuals: 161
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 327
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 997
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4329
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5836
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 117
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 2.323e0

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.399e1

DP
type: SiteQuality
SIO_000300: 1.615124e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.96e-1

GenotypeQuality
all individuals: 1185
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4349
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45600
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 7.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.313208420078649e-4
allele num: 8646
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: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 3.858769052672198e-4
allele num: 10366
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.098e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

DP
type: SiteQuality
SIO_000300: 1.615601e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.037e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.294e1

GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5834
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1156
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4291
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45684
bin: 6.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
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: 10354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.131e0

QD
type: SiteQuality
SIO_000300: 4.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.942e0

FS
type: SiteQuality
SIO_000300: 1.584e0

VQSLOD
type: SiteQuality
SIO_000300: -1.724e0

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

DP
type: SiteQuality
SIO_000300: 1.616344e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 45761
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5836
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4317
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.22e-1

QD
type: SiteQuality
SIO_000300: 1.444e1

DP
type: SiteQuality
SIO_000300: 1.617154e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.392e0

FS
type: SiteQuality
SIO_000300: 3.073e0

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45767
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 329
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.004202942059442e-5
allele num: 66620
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

FS
type: SiteQuality
SIO_000300: 5.182e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

DP
type: SiteQuality
SIO_000300: 1.617634e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.283e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.06e-1

QD
type: SiteQuality
SIO_000300: 1.575e1

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

GenotypeQuality
all individuals: 170
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5836
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1142
bin: 7.25e1
variant carriers: 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: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.393e0

MQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

QD
type: SiteQuality
SIO_000300: 1.461e1

DP
type: SiteQuality
SIO_000300: 1.617625e6

VQSLOD
type: SiteQuality
SIO_000300: 5.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.27e-1

FS
type: SiteQuality
SIO_000300: 5.608e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 122
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 405
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5836
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.85e-1

QD
type: SiteQuality
SIO_000300: 1.617e1

VQSLOD
type: SiteQuality
SIO_000300: -7.816e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.133e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

FS
type: SiteQuality
SIO_000300: 8.365e0

DP
type: SiteQuality
SIO_000300: 1.618059e6

MQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

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

GenotypeQuality
all individuals: 633
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45953
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5838
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 2.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.66183574879227e-5
allele num: 10350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

East Asian
type: Population
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: 16452
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.62e0

FS
type: SiteQuality
SIO_000300: 2.793e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

DP
type: SiteQuality
SIO_000300: 1.619421e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
all individuals: 5863
bin: 9.75e1
variant carriers: 27

GenotypeQuality
all individuals: 45932
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1130
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 149
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 22
allele frequency: 1.904102475333218e-3
allele num: 11554
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 3.866976024748647e-4
allele num: 10344
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-2

DP
type: SiteQuality
SIO_000300: 1.620549e6

MQ
type: SiteQuality
SIO_000300: 5.931e1

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.123e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-2

QD
type: SiteQuality
SIO_000300: 1.274e1

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5844
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.934610176049526e-4
allele num: 10338
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.248e1

FS
type: SiteQuality
SIO_000300: 3.244e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

DP
type: SiteQuality
SIO_000300: 1.620539e6

GenotypeQuality
all individuals: 112
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5844
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 332
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4295
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46129
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003093185981561e-5
allele num: 66598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 1.764e0

DP
type: SiteQuality
SIO_000300: 1.620443e6

QD
type: SiteQuality
SIO_000300: 3.11e1

GenotypeQuality
all individuals: 5842
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 87
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 406
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.089392278650591e-5
allele num: 16422
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.272e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.620376e6

FS
type: SiteQuality
SIO_000300: 8.846e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.243e0

MQ
type: SiteQuality
SIO_000300: 5.874e1

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46105
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4279
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 107
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
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: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.916e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

DP
type: SiteQuality
SIO_000300: 1.619948e6

QD
type: SiteQuality
SIO_000300: 2.294e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.859e0

FS
type: SiteQuality
SIO_000300: 4.729e0

MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.211e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

GenotypeQuality
all individuals: 1007
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5842
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
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: 1
allele frequency: 1.502945773716484e-5
allele num: 66536
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
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: 16402
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.873e1

VQSLOD
type: SiteQuality
SIO_000300: -5.258e-1

DP
type: SiteQuality
SIO_000300: 1.619146e6

MQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

FS
type: SiteQuality
SIO_000300: 1.169e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.765e0

QD
type: SiteQuality
SIO_000300: 1.357e1

GenotypeQuality
all individuals: 635
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5845
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 331
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46092
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.0960741282614e-5
allele num: 16404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.017403588926628e-5
allele num: 66538
num of homozygotes: 1

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.619321e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.14e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

MQRankSum
type: SiteQuality
SIO_000300: -6.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.729999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.481e0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 158
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6831
bin: 9.75e1
variant carriers: 1071

GenotypeQuality
all individuals: 388
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 165
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 2

African
type: Population
allele count: 35
allele frequency: 3.403345001944768e-3
allele num: 10284
num of homozygotes: 0

South Asian
type: Population
allele count: 27
allele frequency: 1.648955661414437e-3
allele num: 16374
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 13
allele frequency: 1.967312348668281e-3
allele num: 6608
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 6.681514476614699e-3
allele num: 898
num of homozygotes: 0

Latino
type: Population
allele count: 25
allele frequency: 2.176941832114246e-3
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 982
allele frequency: 1.477669435415914e-2
allele num: 66456
num of homozygotes: 10

DP
type: SiteQuality
SIO_000300: 1.657829e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

QD
type: SiteQuality
SIO_000300: 1.188e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.474e0

FS
type: SiteQuality
SIO_000300: 5.31e-1

GenotypeQuality
all individuals: 4147
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45253
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 138
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
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: 2
allele frequency: 1.224739742804654e-4
allele num: 16330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66358
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.148e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

DP
type: SiteQuality
SIO_000300: 1.620813e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 4.047e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

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

GenotypeQuality
all individuals: 928
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5893
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.761170492377782e-5
allele num: 11414
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.228652168571078e-4
allele num: 16278
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.610651e6

FS
type: SiteQuality
SIO_000300: 1.129e0

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.351e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1015
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44477
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5891
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4030
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.147037128104254e-5
allele num: 16268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66110
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 2.838e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.002e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.608372e6

GenotypeQuality
all individuals: 907
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 321
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44039
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.157635467980295e-5
allele num: 16240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66028
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

FS
type: SiteQuality
SIO_000300: 3.394e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.603152e6

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.813e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-1

QD
type: SiteQuality
SIO_000300: 7.79e0

GenotypeQuality
all individuals: 1561
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 572
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44055
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.231223836493475e-4
allele num: 16244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66018
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.201e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
type: SiteQuality
SIO_000300: 7.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

QD
type: SiteQuality
SIO_000300: 1.431e1

FS
type: SiteQuality
SIO_000300: 4.645e0

DP
type: SiteQuality
SIO_000300: 1.601895e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.76e-1

GenotypeQuality
all individuals: 853
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3779
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41601
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5891
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166861143523921e-4
allele num: 8570
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.256e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.48e-1

DP
type: SiteQuality
SIO_000300: 1.580328e6

GenotypeQuality
all individuals: 37629
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4044
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3454
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 876
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65002
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11132
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.243162605668821e-4
allele num: 16088
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.081e0

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 1.18e1

DP
type: SiteQuality
SIO_000300: 1.537111e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.755e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

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

GenotypeQuality
all individuals: 4064
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5890
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3460
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538272212650751e-5
allele num: 65008
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16078
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10010
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.536767e6

VQSLOD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

QD
type: SiteQuality
SIO_000300: 9.57e0

FS
type: SiteQuality
SIO_000300: 3.065e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.435e0

GenotypeQuality
all individuals: 5889
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 539
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2652
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34368
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548610896026264e-5
allele num: 64574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16030
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.031e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.159e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.92e-1

DP
type: SiteQuality
SIO_000300: 1.500949e6

GenotypeQuality
all individuals: 807
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5531
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.005429318318922e-4
allele num: 9946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16010
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: 8376
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.62e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 1.494155e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.041e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.5e0

FS
type: SiteQuality
SIO_000300: 1.1119e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 758
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6374
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3059
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557098813490704e-5
allele num: 64222
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.678e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

DP
type: SiteQuality
SIO_000300: 1.467877e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

QD
type: SiteQuality
SIO_000300: 9.27e0

GenotypeQuality
all individuals: 23582
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7900
bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570006594027695e-5
allele num: 63694
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15920
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.182e0

VQSLOD
type: SiteQuality
SIO_000300: -4.538e-1

MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: -1.445e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.405024e6

FS
type: SiteQuality
SIO_000300: 3.222e0

QD
type: SiteQuality
SIO_000300: 1.289e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

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: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.572129291912967e-5
allele num: 63608
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10812
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

DP
type: SiteQuality
SIO_000300: 1.396713e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.529e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.07e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.065e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 387
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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.333122229259025e-5
allele num: 15790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8074
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62714
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 1.341517e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.648e0

FS
type: SiteQuality
SIO_000300: 4.494e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -1.4e-3

BaseQRankSum
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SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 1.073e1

VQSLOD
type: SiteQuality
SIO_000300: 3.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

GenotypeQuality
all individuals: 5892
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variant carriers: 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
all individuals: 389
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7736
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.052853232259423e-4
allele num: 9498
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15578
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VQSLOD
type: SiteQuality
SIO_000300: -4.383e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.81e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

FS
type: SiteQuality
SIO_000300: 1.657e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

DP
type: SiteQuality
SIO_000300: 1.305752e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.51e-1

QD
type: SiteQuality
SIO_000300: 1.673e1

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 174
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variant carriers: 0

GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 380
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GenotypeQuality
all individuals: 240
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GenotypeQuality
all individuals: 211
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GenotypeQuality
all individuals: 270
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variant carriers: 0

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

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: 16512
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

FS
type: SiteQuality
SIO_000300: 6.316e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.39e0

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: 7.13e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 6.690483e6

QD
type: SiteQuality
SIO_000300: 1.362e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.26e-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
all individuals: 402
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

African
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allele count: 132
allele frequency: 1.269230769230769e-2
allele num: 10400
num of homozygotes: 1

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

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

Latino
type: Population
allele count: 20
allele frequency: 1.727414061150458e-3
allele num: 11578
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 6.69218e6

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.225e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.237e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.255e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-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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variant carriers: 4

GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 6.677271e6

MQ
type: SiteQuality
SIO_000300: 5.925e1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.374e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.41e-1

QD
type: SiteQuality
SIO_000300: 1.404e1

GenotypeQuality
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GenotypeQuality
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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: 30
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8654
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African
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allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -2.038e0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele num: 908
num of homozygotes: 0

Latino
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allele num: 11578
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.495055439017081e-5
allele num: 66740
num of homozygotes: 0

African
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East Asian
type: Population
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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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
all individuals: 272
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variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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South Asian
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allele num: 16512
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

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

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.073e-1

MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Non-Finnish)
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South Asian
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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African
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ReadPosRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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DP
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QD
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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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European (Non-Finnish)
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Other
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South Asian
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African
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East Asian
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Latino
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European (Finnish)
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InbreedingCoeff
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ClippingRankSum
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QD
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MQ
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FS
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DP
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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South Asian
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Other
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QD
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FS
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ReadPosRankSum
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DP
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MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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South Asian
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African
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Other
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European (Non-Finnish)
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BaseQRankSum
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FS
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InbreedingCoeff
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MQ
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QD
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VQSLOD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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ClippingRankSum
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InbreedingCoeff
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MQ
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FS
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MQRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Latino
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East Asian
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African
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MQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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MQ
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DP
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InbreedingCoeff
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QD
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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African
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ReadPosRankSum
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MQRankSum
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DP
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QD
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MQ
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BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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African
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Latino
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East Asian
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European (Finnish)
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South Asian
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQRankSum
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FS
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DP
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BaseQRankSum
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ReadPosRankSum
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QD
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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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African
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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VQSLOD
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MQRankSum
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MQ
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BaseQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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South Asian
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African
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European (Finnish)
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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QD
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MQ
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InbreedingCoeff
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DP
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.189e1

VQSLOD
type: SiteQuality
SIO_000300: 9.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

FS
type: SiteQuality
SIO_000300: 1.128e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

DP
type: SiteQuality
SIO_000300: 6.674919e6

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

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.93e-1

QD
type: SiteQuality
SIO_000300: 1.189e1

FS
type: SiteQuality
SIO_000300: 1.128e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 6.674919e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 6.25e1
variant carriers: 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: 908
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495190146543199e-5
allele num: 66738
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 7.718e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

QD
type: SiteQuality
SIO_000300: 1.272e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.778e0

DP
type: SiteQuality
SIO_000300: 6.674716e6

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

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

GenotypeQuality
all individuals: 58764
bin: 9.75e1
variant carriers: 12

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

South Asian
type: Population
allele count: 13
allele frequency: 7.873062015503876e-4
allele num: 16512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.288e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 6.67482e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.05e-1

FS
type: SiteQuality
SIO_000300: 1.627e0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 289
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.73e0

QD
type: SiteQuality
SIO_000300: 1.51e1

FS
type: SiteQuality
SIO_000300: 1.694e0

VQSLOD
type: SiteQuality
SIO_000300: -3.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.933e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.63e-2

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 6.674444e6

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58763
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 1.39e1

FS
type: SiteQuality
SIO_000300: 2.192e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

DP
type: SiteQuality
SIO_000300: 6.674135e6

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

GenotypeQuality
all individuals: 178
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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
all individuals: 11
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 7
allele frequency: 1.048940570024275e-4
allele num: 66734
num of homozygotes: 0

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

Other
type: Population
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allele num: 908
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South Asian
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allele frequency: 0.0e0
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East Asian
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

DP
type: SiteQuality
SIO_000300: 6.674135e6

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.192e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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South Asian
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allele num: 16512
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African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.848e0

QD
type: SiteQuality
SIO_000300: 1.602e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.434e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

FS
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 6.67391e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-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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variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 6.25e1
variant carriers: 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: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

South Asian
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
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African
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allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.008e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.18e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ReadPosRankSum
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VQSLOD
type: SiteQuality
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DP
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