1-52498454-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498454
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498454
    reference: chr 1
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4152C>G
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2234C>G
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.980C>G
  hgvsp: ENSP00000360676.1:p.Ser327Trp
  variant of: http://identifiers.org/hgnc/25160
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39079
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser327Trp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

1-52498457-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498457
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498457
    reference: chr 1
allele count: 5
allele frequency: 4.121128200056047e-5
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4155T>C
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2237T>C
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.977T>C
  hgvsp: ENSP00000360676.1:p.Ile326Thr
  variant of: http://identifiers.org/hgnc/25160
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1937
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 39098
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genotype quality: GenotypeQuality
  all individuals: 8180
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile326Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

1-52498463-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498463
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498463
    reference: chr 1
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4161A>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.971A>T
  hgvsp: ENSP00000360676.1:p.Gln324Leu
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2243A>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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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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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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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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genotype quality: GenotypeQuality
  all individuals: 7349
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln324Leu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-52498467-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498467
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498467
    reference: chr 1
allele count: 4
allele frequency: 3.296087544085171e-5
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4165C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2247C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.967C>T
  hgvsp: ENSP00000360676.1:p.Arg323Cys
  variant of: http://identifiers.org/hgnc/25160
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 3.25e1
  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: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7340
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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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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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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg323Cys
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-52498473-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498473
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498473
    reference: chr 1
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2253C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.961C>T
  hgvsp: ENSP00000360676.1:p.Leu321Phe
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4171C>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu321Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

1-52498491-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498491
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498491
    reference: chr 1
allele count: 2
allele frequency: 1.648043772042586e-5
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2271A>G
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.943A>G
  hgvsp: ENSP00000360676.1:p.Met315Val
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4189A>G
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20655
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1043
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
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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: 566
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 15
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genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7337
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8179
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 39077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met315Val
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/1-52498510-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498510
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498510
    reference: chr 1
allele count: 4
allele frequency: 3.297119965709952e-5
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4208G>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.924G>T
  hgvsp: ENST00000371614.1:c.924G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2290G>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22785
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8178
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  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 7.25e1
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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
  all individuals: 566
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genotype quality: GenotypeQuality
  all individuals: 7317
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 23
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genotype quality: GenotypeQuality
  all individuals: 1928
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17
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genotype quality: GenotypeQuality
  all individuals: 980
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genotype quality: GenotypeQuality
  all individuals: 28
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg308Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-52498511-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498511
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498511
    reference: chr 1
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4209G>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.923G>T
  hgvsp: ENSP00000360676.1:p.Arg308Leu
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2291G>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
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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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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38997
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 38
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 404
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7315
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genotype quality: GenotypeQuality
  all individuals: 8177
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg308Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

1-52498511-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498511
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498511
    reference: chr 1
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4209G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.923G>A
  hgvsp: ENSP00000360676.1:p.Arg308Gln
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2291G>A
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8177
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38997
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg308Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-52498527-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498527
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498527
    reference: chr 1
allele count: 4
allele frequency: 3.29918675046601e-5
allele num: 121242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2307A>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.907A>T
  hgvsp: ENSP00000360676.1:p.Thr303Ser
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4225A>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20523
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
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genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6081
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genotype depth: GenotypeDepth
  all individuals: 514
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 33
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genotype quality: GenotypeQuality
  all individuals: 978
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genotype quality: GenotypeQuality
  all individuals: 32
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 404
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genotype quality: GenotypeQuality
  all individuals: 24
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 38909
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7297
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genotype quality: GenotypeQuality
  all individuals: 565
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
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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: 1916
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8178
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  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr303Ser
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

1-52498530-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498530
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498530
    reference: chr 1
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2310G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4228G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.904G>A
  hgvsp: ENSP00000360676.1:p.Gly302Ser
  variant of: http://identifiers.org/hgnc/25160
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6082
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genotype depth: GenotypeDepth
  all individuals: 138
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genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
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genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38839
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genotype quality: GenotypeQuality
  all individuals: 211
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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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genotype quality: GenotypeQuality
  all individuals: 8175
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genotype quality: GenotypeQuality
  all individuals: 7301
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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: 2046
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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: 1911
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genotype quality: GenotypeQuality
  all individuals: 977
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly302Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

1-52498532-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498532
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498532
    reference: chr 1
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4230C>G
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2312C>G
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.902C>G
  hgvsp: ENSP00000360676.1:p.Pro301Arg
  variant of: http://identifiers.org/hgnc/25160
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20408
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6084
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1133
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genotype depth: GenotypeDepth
  all individuals: 122
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genotype depth: GenotypeDepth
  all individuals: 377
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 654
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genotype depth: GenotypeDepth
  all individuals: 886
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1043
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genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 978
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2047
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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: 1911
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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: 38763
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7300
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genotype quality: GenotypeQuality
  all individuals: 402
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genotype quality: GenotypeQuality
  all individuals: 565
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genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro301Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

1-52498538-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498538
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498538
    reference: chr 1
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.896C>T
  hgvsp: ENSP00000360676.1:p.Thr299Met
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2318C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4236C>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22719
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7262
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8174
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38630
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr299Met
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

1-52498539-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498539
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498539
    reference: chr 1
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.895A>C
  hgvsp: ENSP00000360676.1:p.Thr299Pro
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2319A>C
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4237A>C
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8174
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr299Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

1-52498553-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498553
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498553
    reference: chr 1
allele count: 1
allele frequency: 8.315040244794785e-6
allele num: 120264
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4251C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.881C>T
  hgvsp: ENSP00000360676.1:p.Pro294Leu
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2333C>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37478
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8171
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro294Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

1-52498553-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498553
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498553
    reference: chr 1
allele count: 1
allele frequency: 8.315040244794785e-6
allele num: 120264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2333C>G
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.881C>G
  hgvsp: ENSP00000360676.1:p.Pro294Arg
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4251C>G
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8171
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 7171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37478
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro294Arg
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

1-52498557-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498557
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498557
    reference: chr 1
allele count: 1
allele frequency: 8.339170752860335e-6
allele num: 119916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2337G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4255G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.877G>A
  hgvsp: ENSP00000360676.1:p.Val293Ile
  variant of: http://identifiers.org/hgnc/25160
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8168
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val293Ile
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-52498561-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498561
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498561
    reference: chr 1
allele count: 10
allele frequency: 8.373105584861426e-5
allele num: 119430
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2341C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.873C>T
  hgvsp: ENST00000371614.1:c.873C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4259C>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22252
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36257
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8169
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser291Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

1-52498564-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498564
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498564
    reference: chr 1
allele count: 1
allele frequency: 8.381948635418762e-6
allele num: 119304
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.870G>A
  hgvsp: ENST00000371614.1:c.870G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2344G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4262G>A
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8161
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys290Lys
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

1-52498566-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498566
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498566
    reference: chr 1
allele count: 1
allele frequency: 8.381527114240214e-6
allele num: 119310
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4264A>C
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2346A>C
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.868A>C
  hgvsp: ENSP00000360676.1:p.Lys290Gln
  variant of: http://identifiers.org/hgnc/25160
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36467
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys290Gln
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

1-52498570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498570
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498570
    reference: chr 1
allele count: 164
allele frequency: 1.379379951889919e-3
allele num: 118894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2350G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.864G>A
  hgvsp: ENST00000371614.1:c.864G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4268G>A
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22016
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18535
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 9.75e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8199
  bin: 9.75e1
  variant carriers: 163
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35946
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala288Ala
num of homozygotes: 1
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-52498572-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498572
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498572
    reference: chr 1
allele count: 1
allele frequency: 8.420768984623676e-6
allele num: 118754
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4270G>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.862G>T
  hgvsp: ENSP00000360676.1:p.Ala288Ser
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2352G>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8155
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6944
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36004
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala288Ser
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-52498572-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498572
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498572
    reference: chr 1
allele count: 1
allele frequency: 8.420768984623676e-6
allele num: 118754
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.862G>A
  hgvsp: ENSP00000360676.1:p.Ala288Thr
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4270G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2352G>A
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8155
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 14
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genotype quality: GenotypeQuality
  all individuals: 396
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 6944
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36004
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 268
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genotype quality: GenotypeQuality
  all individuals: 138
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala288Thr
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

1-52498573-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498573
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498573
    reference: chr 1
allele count: 4
allele frequency: 3.369896712665757e-5
allele num: 118698
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2353A>C
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4271A>C
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.861A>C
  hgvsp: ENSP00000360676.1:p.Glu287Asp
  variant of: http://identifiers.org/hgnc/25160
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 378
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 21983
  bin: 2.75e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 558
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genotype quality: GenotypeQuality
  all individuals: 359
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2433
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 131
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 395
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genotype quality: GenotypeQuality
  all individuals: 266
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genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1866
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6942
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu287Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD

1-52498581-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498581
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498581
    reference: chr 1
allele count: 7
allele frequency: 5.935020009496032e-5
allele num: 117944
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2361T>C
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.853T>C
  hgvsp: ENST00000371614.1:c.853T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4279T>C
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17782
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21713
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
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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: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8157
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35043
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu285Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

1-52498583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498583
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498583
    reference: chr 1
allele count: 9
allele frequency: 7.646559048428207e-5
allele num: 117700
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.851G>A
  hgvsp: ENSP00000360676.1:p.Gly284Glu
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2363G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4281G>A
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 6858
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34861
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8156
  bin: 9.75e1
  variant carriers: 9
hgvs: p.Gly284Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

1-52498585-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498585
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498585
    reference: chr 1
allele count: 1
allele frequency: 8.501666326600013e-6
allele num: 117624
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.849C>T
  hgvsp: ENST00000371614.1:c.849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4283C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2365C>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6855
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8148
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala283Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-52498586-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498586
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498586
    reference: chr 1
allele count: 7
allele frequency: 5.959678517913091e-5
allele num: 117456
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.848C>A
  hgvsp: ENSP00000360676.1:p.Ala283Asp
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4284C>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2366C>A
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17517
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  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: 8148
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34663
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala283Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

1-52498590-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498590
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498590
    reference: chr 1
allele count: 1
allele frequency: 8.538688798948034e-6
allele num: 117114
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.844C>T
  hgvsp: ENST00000371614.1:c.844C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2370C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4288C>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8149
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu282Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD

1-52498590-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498590
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498590
    reference: chr 1
allele count: 9
allele frequency: 7.684819919053231e-5
allele num: 117114
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4288C>G
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2370C>G
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.844C>G
  hgvsp: ENSP00000360676.1:p.Leu282Val
  variant of: http://identifiers.org/hgnc/25160
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5701
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21477
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8149
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu282Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-52498591-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498591
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498591
    reference: chr 1
allele count: 1
allele frequency: 8.545693824881643e-6
allele num: 117018
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.843A>T
  hgvsp: ENST00000371614.1:c.843A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2371A>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4289A>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6821
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val281Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-52498596-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498596
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498596
    reference: chr 1
allele count: 1
allele frequency: 8.575740944017563e-6
allele num: 116608
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2376C>G
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.838C>G
  hgvsp: ENSP00000360676.1:p.Gln280Glu
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4294C>G
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3922
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8139
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 958
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6811
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34169
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln280Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

1-52498601-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498601
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498601
    reference: chr 1
allele count: 1
allele frequency: 8.614154779133072e-6
allele num: 116088
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.833C>T
  hgvsp: ENSP00000360676.1:p.Thr278Met
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4299C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2381C>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  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
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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
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  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
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6804
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4125
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr278Met
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

1-52498601-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498601
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498601
    reference: chr 1
allele count: 1
allele frequency: 8.614154779133072e-6
allele num: 116088
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4299C>G
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.833C>G
  hgvsp: ENSP00000360676.1:p.Thr278Arg
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2381C>G
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8137
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6804
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr278Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

1-52498613-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498613
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498613
    reference: chr 1
allele count: 1
allele frequency: 8.694291328313829e-6
allele num: 115018
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4311T>C
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2393T>C
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.821T>C
  hgvsp: ENSP00000360676.1:p.Leu274Ser
  variant of: http://identifiers.org/hgnc/25160
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8135
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33524
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4554
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu274Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

1-52498614-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498614
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498614
    reference: chr 1
allele count: 1
allele frequency: 8.703674691454733e-6
allele num: 114894
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.820T>C
  hgvsp: ENST00000371614.1:c.820T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4312T>C
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2394T>C
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4517
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8135
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33431
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu274Leu
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/1-52498615-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498615
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498615
    reference: chr 1
allele count: 3
allele frequency: 2.613923499172257e-5
allele num: 114770
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4313G>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.819G>T
  hgvsp: ENSP00000360676.1:p.Gln273His
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2395G>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8136
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4539
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln273His
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

1-52498628-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498628
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498628
    reference: chr 1
allele count: 4
allele frequency: 3.5438372669927e-5
allele num: 112872
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4326G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2408G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.806G>A
  hgvsp: ENSP00000360676.1:p.Ser269Asn
  variant of: http://identifiers.org/hgnc/25160
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8132
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser269Asn
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

1-52498633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498633
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498633
    reference: chr 1
allele count: 1
allele frequency: 8.913609298677221e-6
allele num: 112188
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.801C>T
  hgvsp: ENST00000371614.1:c.801C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2413C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4331C>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 551
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6658
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3950
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 391
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8130
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser267Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-52498645-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498645
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498645
    reference: chr 1
allele count: 1
allele frequency: 9.002196535954774e-6
allele num: 111084
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4343G>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2425G>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.789G>T
  hgvsp: ENSP00000360676.1:p.Gln263His
  variant of: http://identifiers.org/hgnc/25160
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16023
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20662
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 2.25e1
  variant carriers: 0
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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genotype quality: GenotypeQuality
  all individuals: 98
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genotype quality: GenotypeQuality
  all individuals: 1717
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 431
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1909
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln263His
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-52498647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498647
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498647
    reference: chr 1
allele count: 1
allele frequency: 9.013556388808768e-6
allele num: 110944
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.787C>T
  hgvsp: ENSP00000360676.1:p.Gln263Ter
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4345C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2427C>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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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
  all individuals: 1823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 498
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1909
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6605
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln263Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

1-52498648-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498648
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498648
    reference: chr 1
allele count: 1
allele frequency: 9.028530155290718e-6
allele num: 110760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2428C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.786C>T
  hgvsp: ENST00000371614.1:c.786C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4346C>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32430
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6601
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8129
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser262Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/1-52498651-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498651
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498651
    reference: chr 1
allele count: 1
allele frequency: 9.058627436770781e-6
allele num: 110392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4349G>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2431G>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.783G>T
  hgvsp: ENSP00000360676.1:p.Gln261His
  variant of: http://identifiers.org/hgnc/25160
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32361
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6584
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln261His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

1-52498651-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498651
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498651
    reference: chr 1
allele count: 1
allele frequency: 9.058627436770781e-6
allele num: 110392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2431G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4349G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.783G>A
  hgvsp: ENST00000371614.1:c.783G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25160
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
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genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 32361
  bin: 6.25e1
  variant carriers: 0
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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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8129
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln261Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ

1-52498653-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498653
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498653
    reference: chr 1
allele count: 1
allele frequency: 9.058463322282008e-6
allele num: 110394
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.781C>G
  hgvsp: ENSP00000360676.1:p.Gln261Glu
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2433C>G
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4351C>G
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 88
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
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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
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3517
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 32428
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 6586
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8129
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln261Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

1-52498654-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498654
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498654
    reference: chr 1
allele count: 6
allele frequency: 5.438230762258678e-5
allele num: 110330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2434G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.780G>A
  hgvsp: ENST00000371614.1:c.780G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4352G>A
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3522
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8132
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32423
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr260Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS

1-52498658-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498658
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498658
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 110144
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4356C>G
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.776C>G
  hgvsp: ENSP00000360676.1:p.Ser259Cys
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2438C>G
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6578
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1919
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8127
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser259Cys
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

1-52498667-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498667
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498667
    reference: chr 1
allele count: 1
allele frequency: 9.10050598813294e-6
allele num: 109884
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4365C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2447C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.767C>T
  hgvsp: ENSP00000360676.1:p.Pro256Leu
  variant of: http://identifiers.org/hgnc/25160
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
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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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genotype quality: GenotypeQuality
  all individuals: 390
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genotype quality: GenotypeQuality
  all individuals: 1904
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3567
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro256Leu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

1-52498673-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498673
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498673
    reference: chr 1
allele count: 1
allele frequency: 9.121923631255359e-6
allele num: 109626
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4371C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.761C>T
  hgvsp: ENSP00000360676.1:p.Pro254Leu
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2453C>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 390
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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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: 1901
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genotype quality: GenotypeQuality
  all individuals: 32131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro254Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

1-52498677-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498677
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498677
    reference: chr 1
allele count: 1
allele frequency: 9.126918934706022e-6
allele num: 109566
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2457G>C
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.757G>C
  hgvsp: ENSP00000360676.1:p.Ala253Pro
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4375G>C
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 1
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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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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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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 938
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 6539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 32159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala253Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

1-52498677-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498677
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498677
    reference: chr 1
allele count: 1
allele frequency: 9.126918934706022e-6
allele num: 109566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2457G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.757G>A
  hgvsp: ENSP00000360676.1:p.Ala253Thr
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4375G>A
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15883
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 378
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genotype depth: GenotypeDepth
  all individuals: 1157
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genotype depth: GenotypeDepth
  all individuals: 512
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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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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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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1800
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 114
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genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala253Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

1-52498679-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498679
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498679
    reference: chr 1
allele count: 1
allele frequency: 9.130252177565145e-6
allele num: 109526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2459G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4377G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.755G>A
  hgvsp: ENSP00000360676.1:p.Arg252Gln
  variant of: http://identifiers.org/hgnc/25160
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1027
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 74
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  variant carriers: 0
hgvs: p.Arg252Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

1-52498680-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498680
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498680
    reference: chr 1
allele count: 1
allele frequency: 9.128251939753537e-6
allele num: 109550
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4378C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2460C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.754C>T
  hgvsp: ENSP00000360676.1:p.Arg252Trp
  variant of: http://identifiers.org/hgnc/25160
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
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genotype depth: GenotypeDepth
  all individuals: 1156
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 65
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genotype quality: GenotypeQuality
  all individuals: 6547
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  variant carriers: 0
hgvs: p.Arg252Trp
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-52498692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498692
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498692
    reference: chr 1
allele count: 1
allele frequency: 9.13191971216189e-6
allele num: 109506
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4390C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.742C>T
  hgvsp: ENST00000371614.1:c.742C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2472C>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15828
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8126
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3881
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32058
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu248Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

1-52498693-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498693
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498693
    reference: chr 1
allele count: 1
allele frequency: 9.129418638621092e-6
allele num: 109536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2473C>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.741C>A
  hgvsp: ENST00000371614.1:c.741C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4391C>A
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8126
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3946
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32076
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala247Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-52498695-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498695
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498695
    reference: chr 1
allele count: 1
allele frequency: 9.138595946118838e-6
allele num: 109426
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4393G>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.739G>T
  hgvsp: ENSP00000360676.1:p.Ala247Ser
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2475G>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31993
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8124
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
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genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3785
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6528
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala247Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

1-52498697-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498697
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498697
    reference: chr 1
allele count: 1
allele frequency: 9.130418903619297e-6
allele num: 109524
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.737C>T
  hgvsp: ENSP00000360676.1:p.Ser246Phe
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2477C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4395C>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 32034
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6527
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 546
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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: 388
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8123
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser246Phe
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

1-52498699-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498699
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498699
    reference: chr 1
allele count: 1
allele frequency: 9.149800534348351e-6
allele num: 109292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2479C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4397C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.735C>T
  hgvsp: ENST00000371614.1:c.735C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25160
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8122
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6505
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3820
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg245Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

1-52498705-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498705
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498705
    reference: chr 1
allele count: 1
allele frequency: 9.129585334234119e-6
allele num: 109534
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.729G>A
  hgvsp: ENST00000371614.1:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2485G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4403G>A
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32078
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6514
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 8121
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4362
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly243Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-52498709-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498709
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498709
    reference: chr 1
allele count: 1
allele frequency: 9.121091612244154e-6
allele num: 109636
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4407C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.725C>T
  hgvsp: ENSP00000360676.1:p.Ala242Val
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2489C>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8121
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4627
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 32141
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 389
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala242Val
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

1-52498714-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498714
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498714
    reference: chr 1
allele count: 1
allele frequency: 9.098849905371961e-6
allele num: 109904
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4412C>G
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2494C>G
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.720C>G
  hgvsp: ENST00000371614.1:c.720C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25160
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15951
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 546
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genotype quality: GenotypeQuality
  all individuals: 389
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  variant carriers: 0
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
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1890
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32217
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro240Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-52498717-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498717
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498717
    reference: chr 1
allele count: 1
allele frequency: 9.099015486524358e-6
allele num: 109902
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4415G>C
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.717G>C
  hgvsp: ENSP00000360676.1:p.Leu239Phe
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2497G>C
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32146
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8121
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu239Phe
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

1-52498721-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498721
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498721
    reference: chr 1
allele count: 2
allele frequency: 1.81705854562634e-5
allele num: 110068
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.713C>T
  hgvsp: ENSP00000360676.1:p.Pro238Leu
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4419C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2501C>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8129
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4714
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32009
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6496
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro238Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

1-52498721-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498721
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498721
    reference: chr 1
allele count: 30
allele frequency: 2.72558781843951e-4
allele num: 110068
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4419C>G
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2501C>G
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.713C>G
  hgvsp: ENSP00000360676.1:p.Pro238Arg
  variant of: http://identifiers.org/hgnc/25160
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20263
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 15930
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4714
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8129
  bin: 9.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6496
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32009
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro238Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-52498721-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498721
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498721
    reference: chr 1
allele count: 1
allele frequency: 9.085292728131701e-6
allele num: 110068
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.713C>A
  hgvsp: ENSP00000360676.1:p.Pro238Gln
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4419C>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2501C>A
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4714
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32009
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6496
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro238Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-52498722-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498722
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498722
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 110142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2502C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.712C>T
  hgvsp: ENSP00000360676.1:p.Pro238Ser
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4420C>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6506
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4826
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32078
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro238Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-52498728-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498728
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498728
    reference: chr 1
allele count: 11
allele frequency: 9.956012526473942e-5
allele num: 110486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2508G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4426G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.706G>A
  hgvsp: ENSP00000360676.1:p.Glu236Lys
  variant of: http://identifiers.org/hgnc/25160
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 512
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
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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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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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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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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: 11
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu236Lys
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

1-52498733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498733
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498733
    reference: chr 1
allele count: 134
allele frequency: 1.209582784206821e-3
allele num: 110782
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.701G>A
  hgvsp: ENSP00000360676.1:p.Gly234Asp
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4431G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2513G>A
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1024
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genotype depth: GenotypeDepth
  all individuals: 384
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genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 75
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 2
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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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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly234Asp
num of homozygotes: 1
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

1-52498737-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498737
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498737
    reference: chr 1
allele count: 1
allele frequency: 8.97488826264113e-6
allele num: 111422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2517G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4435G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.697G>A
  hgvsp: ENSP00000360676.1:p.Val233Met
  variant of: http://identifiers.org/hgnc/25160
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.75e1
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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genotype quality: GenotypeQuality
  all individuals: 4926
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val233Met
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/1-52498739-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498739
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498739
    reference: chr 1
allele count: 1
allele frequency: 8.949987470017542e-6
allele num: 111732
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2519T>G
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.695T>G
  hgvsp: ENSP00000360676.1:p.Leu232Trp
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4437T>G
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 4732
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu232Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

1-52498739-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498739
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498739
    reference: chr 1
allele count: 1
allele frequency: 8.949987470017542e-6
allele num: 111732
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2519T>C
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.695T>C
  hgvsp: ENSP00000360676.1:p.Leu232Ser
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4437T>C
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6566
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1876
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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: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8059
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4732
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu232Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

1-52498748-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498748
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498748
    reference: chr 1
allele count: 2
allele frequency: 1.775978119949562e-5
allele num: 112614
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2528T>C
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.686T>C
  hgvsp: ENSP00000360676.1:p.Leu229Ser
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4446T>C
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  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: 1022
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
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  variant carriers: 0
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
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genotype quality: GenotypeQuality
  all individuals: 6579
  bin: 6.75e1
  variant carriers: 0
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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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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genotype quality: GenotypeQuality
  all individuals: 8059
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu229Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-52498753-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498753
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498753
    reference: chr 1
allele count: 1
allele frequency: 8.8467390919707e-6
allele num: 113036
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4451G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.681G>A
  hgvsp: ENST00000371614.1:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2533G>A
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.75e1
  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
  all individuals: 1010
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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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
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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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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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genotype quality: GenotypeQuality
  all individuals: 1794
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33160
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg227Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

1-52498754-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498754
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498754
    reference: chr 1
allele count: 11
allele frequency: 9.711480735953668e-5
allele num: 113268
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.680G>A
  hgvsp: ENSP00000360676.1:p.Arg227Gln
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2534G>A
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4452G>A
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8067
  bin: 9.75e1
  variant carriers: 11
hgvs: p.Arg227Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-52498762-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498762
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498762
    reference: chr 1
allele count: 1
allele frequency: 8.703371686191231e-6
allele num: 114898
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.672C>T
  hgvsp: ENST00000371614.1:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4460C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2542C>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3589
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8057
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6666
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg224Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

1-52498777-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52498777
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52498777
    reference: chr 1
allele count: 1
allele frequency: 8.521371599972732e-6
allele num: 117352
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198841
  ensembl protein: ENSP00000360676
  ensembl transcript: ENST00000371614
  gene symbol: KTI12
  hgvsc: ENST00000371614.1:c.657C>T
  hgvsp: ENST00000371614.1:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25160
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000477120
  ensembl transcript: ENST00000472624
  gene symbol: TXNDC12
  hgvsc: ENST00000472624.1:c.159-2557C>T
  variant of: http://identifiers.org/hgnc/24626
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117862
  ensembl protein: ENSP00000360688
  ensembl transcript: ENST00000371626
  gene symbol: TXNDC12
  hgvsc: ENST00000371626.4:c.159-4475C>T
  variant of: http://identifiers.org/hgnc/24626
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6843
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8057
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro219Pro
num of homozygotes: 0
population: Latino
reference allele: G

GenotypeQuality
all individuals: 8181
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
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: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.623e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

DP
type: SiteQuality
SIO_000300: 1.996336e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.868e0

QD
type: SiteQuality
SIO_000300: 1.715e1

GenotypeQuality
all individuals: 405
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.777675063554426e-4
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.512e1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.09e0

FS
type: SiteQuality
SIO_000300: 5.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.71e-1

DP
type: SiteQuality
SIO_000300: 1.996971e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 7.21e-1

GenotypeQuality
all individuals: 1937
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 4.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.067e-1

DP
type: SiteQuality
SIO_000300: 1.996432e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.073e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

MQ
type: SiteQuality
SIO_000300: 5.888e1

QD
type: SiteQuality
SIO_000300: 1.476e1

GenotypeQuality
all individuals: 1939
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.99790073474284e-5
allele num: 66690
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.67e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 1.359e1

DP
type: SiteQuality
SIO_000300: 1.996833e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.11e-1

GenotypeQuality
all individuals: 8178
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.89e-1

FS
type: SiteQuality
SIO_000300: 4.982e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

QD
type: SiteQuality
SIO_000300: 1.406e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.606e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.996788e6

VQSLOD
type: SiteQuality
SIO_000300: -3.921e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

GenotypeQuality
all individuals: 405
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999040307101727e-5
allele num: 66688
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 5.067e0

VQSLOD
type: SiteQuality
SIO_000300: 8.32e-1

DP
type: SiteQuality
SIO_000300: 1.996447e6

GenotypeQuality
all individuals: 39030
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
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: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

FS
type: SiteQuality
SIO_000300: 3.25e0

QD
type: SiteQuality
SIO_000300: 1.323e1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.709e0

MQRankSum
type: SiteQuality
SIO_000300: -2.85e-1

DP
type: SiteQuality
SIO_000300: 1.995533e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e-1

GenotypeQuality
all individuals: 566
bin: 9.25e1
variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.500195025353296e-5
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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Latino
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Other
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FS
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QD
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MQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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Other
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African
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South Asian
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allele frequency: 2.427184466019417e-4
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European (Finnish)
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East Asian
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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FS
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MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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ReadPosRankSum
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DP
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BaseQRankSum
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MQ
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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South Asian
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African
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Latino
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European (Non-Finnish)
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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FS
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MQ
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DP
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ClippingRankSum
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele frequency: 1.50154659299078e-5
allele num: 66598
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East Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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Other
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MQRankSum
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FS
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QD
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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MQ
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GenotypeQuality
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variant carriers: 0

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

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

South Asian
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European (Non-Finnish)
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allele frequency: 1.502855425308085e-5
allele num: 66540
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African
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Latino
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East Asian
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QD
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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DP
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FS
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InbreedingCoeff
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MQRankSum
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MQ
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 1.509479531457553e-5
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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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DP
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InbreedingCoeff
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QD
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
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MQRankSum
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FS
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

African
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South Asian
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Latino
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Other
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European (Finnish)
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European (Non-Finnish)
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East Asian
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DP
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MQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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Other
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Latino
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African
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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MQ
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BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
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FS
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VQSLOD
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QD
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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Other
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African
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South Asian
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MQ
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BaseQRankSum
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InbreedingCoeff
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QD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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FS
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DP
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GenotypeQuality
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African
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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Other
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VQSLOD
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DP
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FS
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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MQ
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BaseQRankSum
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MQRankSum
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GenotypeQuality
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East Asian
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Other
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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DP
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VQSLOD
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MQ
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QD
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ClippingRankSum
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GenotypeQuality
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South Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.418e1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65828
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.01e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.95524e6

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.66e0

GenotypeQuality
all individuals: 2319
bin: 2.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65828
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.693679720822024e-5
allele num: 10316
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14928
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.95524e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-1

QD
type: SiteQuality
SIO_000300: 1.01e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
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: 65810
num of homozygotes: 0

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

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

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

South Asian
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allele count: 4
allele frequency: 2.684924150892737e-4
allele num: 14898
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.527e0

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

DP
type: SiteQuality
SIO_000300: 1.953501e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.416e1

FS
type: SiteQuality
SIO_000300: 8.500999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 2.97e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.047944161662958e-5
allele num: 65618
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: 880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.39217597104274e-4
allele num: 14366
num of homozygotes: 0

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

Latino
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allele count: 3
allele frequency: 2.603262755987504e-4
allele num: 11524
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.941958e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.1e0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

QD
type: SiteQuality
SIO_000300: 1.477e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-2

FS
type: SiteQuality
SIO_000300: 5.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.041184636742249e-3
allele num: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65558
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 1.939872e6

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.166e0

FS
type: SiteQuality
SIO_000300: 6.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.31e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.725734292939116e-5
allele num: 10282
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: 8644
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.64e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.400000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.9e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 1.936936e6

FS
type: SiteQuality
SIO_000300: 1.422e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: -1.496e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.343e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.068571777492825e-4
allele num: 65508
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.935633e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.151e0

QD
type: SiteQuality
SIO_000300: 1.333e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.874e0

FS
type: SiteQuality
SIO_000300: 6.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: -5.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

African
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allele count: 1
allele frequency: 9.738994935722633e-5
allele num: 10268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65406
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.944e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.9311e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

FS
type: SiteQuality
SIO_000300: 1.201e0

QD
type: SiteQuality
SIO_000300: 1.282e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13792
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.736412571627018e-4
allele num: 11518
num of homozygotes: 0

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

African
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allele count: 7
allele frequency: 6.817296455005844e-4
allele num: 10268
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65406
num of homozygotes: 0

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

FS
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 1
allele frequency: 1.529472943623627e-5
allele num: 65382
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10270
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.0632e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65272
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South Asian
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allele count: 1
allele frequency: 7.4360499702558e-5
allele num: 13448
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.27e-1

FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 13138
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.536003932170066e-5
allele num: 65104
num of homozygotes: 0

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

Other
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African
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Latino
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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FS
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MQRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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DP
type: SiteQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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allele count: 0
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num of homozygotes: 0

African
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allele frequency: 9.782821365681862e-5
allele num: 10222
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Latino
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num of homozygotes: 0

East Asian
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South Asian
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Other
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InbreedingCoeff
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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MQRankSum
type: SiteQuality
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MQ
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VQSLOD
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DP
type: SiteQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
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num of homozygotes: 0

South Asian
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Other
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allele frequency: 1.16822429906542e-3
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
type: Population
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African
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FS
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MQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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QD
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BaseQRankSum
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DP
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African
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Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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FS
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MQRankSum
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MQ
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DP
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GenotypeQuality
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East Asian
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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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DP
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MQRankSum
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QD
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FS
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ReadPosRankSum
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MQ
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GenotypeQuality
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Latino
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South Asian
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Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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FS
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DP
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQ
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GenotypeQuality
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European (Finnish)
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South Asian
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Latino
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African
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European (Non-Finnish)
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ReadPosRankSum
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DP
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MQ
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FS
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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East Asian
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African
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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VQSLOD
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FS
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MQRankSum
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DP
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MQ
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BaseQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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Other
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East Asian
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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FS
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MQ
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QD
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DP
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Latino
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QD
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MQRankSum
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FS
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MQ
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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DP
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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MQRankSum
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MQ
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QD
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
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DP
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ClippingRankSum
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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ClippingRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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QD
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MQ
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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East Asian
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South Asian
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African
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FS
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InbreedingCoeff
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QD
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MQRankSum
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MQ
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BaseQRankSum
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DP
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VQSLOD
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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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East Asian
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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DP
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QD
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MQ
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FS
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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InbreedingCoeff
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MQ
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ReadPosRankSum
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VQSLOD
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FS
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MQRankSum
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DP
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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VQSLOD
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QD
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DP
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FS
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.5904825524064e-5
allele num: 62874
num of homozygotes: 0

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

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

Other
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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DP
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.904e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.043187982474442e-4
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African
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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Other
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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MQ
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ClippingRankSum
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QD
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
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allele frequency: 1.043187982474442e-4
allele num: 9586
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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Other
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allele frequency: 0.0e0
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African
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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DP
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.991e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 9580
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 62820
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Latino
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Other
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African
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ClippingRankSum
type: SiteQuality
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MQRankSum
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MQ
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QD
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

DP
type: SiteQuality
SIO_000300: 1.863077e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 9592
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.591393742639804e-5
allele num: 62838
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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Other
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MQ
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQRankSum
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DP
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FS
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QD
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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Other
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African
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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MQ
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MQRankSum
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DP
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
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allele num: 9654
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QD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
type: SiteQuality
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DP
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FS
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62732
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East Asian
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South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele num: 9654
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DP
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 62748
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South Asian
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Other
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Latino
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European (Finnish)
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VQSLOD
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ClippingRankSum
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FS
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MQ
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BaseQRankSum
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DP
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QD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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Other
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African
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FS
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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DP
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QD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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South Asian
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East Asian
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Latino
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Other
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African
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European (Finnish)
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num of homozygotes: 0

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

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

South Asian
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African
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Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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BaseQRankSum
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VQSLOD
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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MQ
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.867794e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62744
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Latino
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allele frequency: 0.0e0
allele num: 11464
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East Asian
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allele frequency: 1.171508903467666e-4
allele num: 8536
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 1.051082615093546e-4
allele num: 9514
num of homozygotes: 0

InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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DP
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BaseQRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.32e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62744
num of homozygotes: 0

African
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allele frequency: 3.048139583771284e-3
allele num: 9514
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Latino
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allele frequency: 8.722958827634333e-5
allele num: 11464
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

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

ClippingRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.306e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 1
allele frequency: 1.593777891113094e-5
allele num: 62744
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

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

InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.32e-1

MQRankSum
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VQSLOD
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FS
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MQ
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.306e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9518
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62764
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 802
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8540
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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FS
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.868346e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9528
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European (Non-Finnish)
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allele count: 5
allele frequency: 7.960008915209986e-5
allele num: 62814
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European (Finnish)
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allele count: 6
allele frequency: 9.071666162685213e-4
allele num: 6614
num of homozygotes: 0

East Asian
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South Asian
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allele num: 10710
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.871761e6

QD
type: SiteQuality
SIO_000300: 1.571e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

African
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allele frequency: 1.279362416107383e-2
allele num: 9536
num of homozygotes: 1

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

Latino
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allele count: 7
allele frequency: 6.099686301847334e-4
allele num: 11476
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.95291872117067e-5
allele num: 62870
num of homozygotes: 0

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.985e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.882533e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.332e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9546
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.587049674654817e-5
allele num: 63010
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South Asian
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Latino
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allele frequency: 0.0e0
allele num: 11486
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 1.877637e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63056
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 814
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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South Asian
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East Asian
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African
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allele frequency: 1.049538203190596e-4
allele num: 9528
num of homozygotes: 0

ReadPosRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
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DP
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

South Asian
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num of homozygotes: 0

African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Other
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Latino
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DP
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FS
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.159258206173191e-5
allele num: 63306
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South Asian
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African
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East Asian
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Other
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DP
type: SiteQuality
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VQSLOD
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ClippingRankSum
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FS
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MQRankSum
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MQ
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QD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

Latino
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East Asian
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allele frequency: 1.164144353899884e-4
allele num: 8590
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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QD
type: SiteQuality
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MQ
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ReadPosRankSum
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
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num of homozygotes: 0

Latino
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allele frequency: 8.691117677733357e-5
allele num: 11506
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African
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South Asian
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allele frequency: 4.733354370463869e-4
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European (Non-Finnish)
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allele frequency: 6.304772712943698e-5
allele num: 63444
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East Asian
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Other
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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FS
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BaseQRankSum
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DP
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MQRankSum
type: SiteQuality
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MQ
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
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num of homozygotes: 0

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

African
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South Asian
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East Asian
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BaseQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQRankSum
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ClippingRankSum
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QD
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VQSLOD
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DP
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0